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Ann. Hum. Genet., Lond.

(1974), 37, 359

359

Printed in &eat Britain

A cytogenetic survey of 1 1,680 newborn infants


BY PATRICIA A. JACOBS,* MARIE MELVILLE, SHIRLEY RATCLIFFE
Medical Research Council, Clinical and Population Cytogenetics Unit,
Western General Hospital, Edinburgh
ALEX J . K E A Y

Consultant Paediatrician, Western General Hospital, Edinburgh


AND

JAMES SYME

Consultant Paediatrician, Eastern General Hospital, Edinburgh


I n 1970 we published the preliminary results of chromosome studies on 3500 consecutive
liveborn male infants (Ratcliffe et al. 1970). The survey was continued in its original form until
a further 300 newborn males had been karyotyped and was then extended to include both male
and female consecutive live births. A total of 7880 babies, 4049 males and 3831 females, were
studied during the latter part of the survey. The survey was originally restricted to males because
of the need to establish the incidence of 47, X Y Y males among the newborn and to provide
material for a prospective study to determine the phenotype associated with an additional Y
chromosome.However, the incidence of many other kinds of chromosome abnormalities affecting
both males and females was also unknown. Furthermore, an accurate assessment of the clinical
implication of many chromosome abnormalities was lacking because relatively few observations
had been made on individuals whose method of ascertainment was unbiased. Our observations,
therefore, were extended to the newborn of both sexes so that the total incidence of chromosome
abnormalities in the liveborn could be established and a prospective study of all babies found to
have an abnormal chromosome constitution initiated.
The cytogenetic results of both parts of the survey, covering 7849 males and 3831 females, are
the subject of the present report, while epidemiological data on the study population and the
prospective study of the babies found t o have an abnormal chromosome constitution will be
reported in separate communications.

THE STUDY POPULATION

The survey included: (i)all consecutive liveborn male infants delivered between 1 April 1967
and 31 December 1969 in two Edinburgh hospitals, a total of 3805; (ii) all consecutive live births
occurring in the same two hospitals between I January 1970 and 30 November 1972, a total of
41 13 males and 3885 females. During the first part of the survey about 90 yoof Edinburgh mothers
had their babies in hospital, the percentage rising to over 95 % by 1969. Latterly the only home
deliveries were to mothers who chose a home confinement and in whom there was no social or
medical contra-indication.
Data on maternal age, obstetric history, length of gestation, birth measurements and physical

* Present address : Department of Anatomy and Reproductive Biology, University of Hawaii, School
of Medicine, 1960 East-West Road, Honolulu, Hawaii 96822, U.S.A.
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condition of the baby were recorded for each delivery and these data, covering the total study
population, will be reported separately.
METHODS

capillary blood (0-2-0.5 ml.) was obtained by heel-prick during the neonatal period from every
baby in the study population. Blood was cultured for 2-3 days, the cultures processed by standard
cytogenetic techniques, and slides stained with lactic-acetic-orcein.
During the first part of the survey the chromosomes of two cells from each baby were counted
and fully analysed by direct microscopy. The result on each baby was checked by a second
observer who counted and analysed the chromosomes of a third cell. Furthermore, a buccal
smear was examined from each baby for X-chromatin, independent of the chromosome examination. The results from both chromosome and buccal-smear studies were concordant in
every baby. During the second part of the survey, when both male and female babies were being
examined, the chromosomesof five cells from each baby were initially counted and fully analysed
by direct microscopy, and the result checked by a second observer. However, no routine sexchromatin examination was done. Apart from these differences the cytogenetic analyses of both
parts of the survey were the same. If there was any deviation from a normal chromosome constitution, corresponding to the sex of the baby, in the initial cells examined, a total of ten cells
was then counted and fully analysed. If, after ten cells had been analysed, there was any doubt
about the chromosome constitution of the baby, or if a chromosome anomaly was present, at
least 30 cells were counted and analysed. Whenever practicable a second blood sample was
obtained from patients with an abnormal karyotype, which in every case confirmed the original
finding. A skin biopsy was obtained from any baby who died before a successful blood culture
had been obtained and the chromosomes of the fibroblasts examined.
Chromosome analysis was performed by direct microscopy of orcein stained preparations and
therefore the abnormalities reported are only those detectable using this technique. However,
where possible, the chromosomes of babies who were identified as having an abnormality were
stained with quinacrine dihydrochloride (ORiordan et al. 1971) and viewed on a fluorescent
microscope and/or stained with Giemsa after treatment with saline (ASG technique - Sumner,
Evans & Buckland, 1971) in order to identify the abnormal chromosomes with precision. Both
X-chromatin (McLean, Harnden & Court Brown, 1961) and Y-chromatin (Robinson, 1971)
studies were done on babies with an abnormal sex chromosome constitution.
RESULTS

A successful cytogenetic analysis was obtained on 7849 males and 3831 females, representing
98.96% of all babies in the study population. Of these, 78 were found to have an abnormal
chromosome constitution. No systematic attempt was made during the course of the survey to
define and record all variant chromosomes. However, where the variant was particularly striking
its presence was recorded. The distinction between a chromosome abnormality and a chromosome
variant is, to some extent, arbitrary and during the survey we identified four babies with an
unusual karyotype where we had difficulty in deciding whether the karyotype should be classified
as abnormal or variant. We decided to consider all four as variants, and they are not included in
the total of 78 abnormalities. However, we have included a description of these four variants in
this paper.

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(1) Sex chromosome abnormalities in X-chromatin-negative males (Appendix Tables I A and B )


Among the 7849 males from whom satisfactory preparations were obtained, 12 (0.15 yo)
were found to have an abnormality of number of the Y chromosomes, I0 having a 4 7 , X Y Y
constitution while two were mosaics with a 47, X Y Y cell line. It is worth noting ( a )that these

infants were neither unusually long nor unusually heavy a t birth, the mean birth length of the
singletons of more than 38 weeks gestation being 51.6cm. (control males 51.7cm.) while the
mean birthweight was 3-39kg. (control males 3.42 kg.); ( b )that the majority of these infants were
physically normal at birth, there being a minor abnormality, bilateral clinodactyly, in only one
infant.
(2) Sex chromosome abnormalities in X-chromatin-positive males (Appendix Tables 2 A and B )

Among the 7849 males from whom satisfactory preparations were obtained, 12 (0.15%) were
found to have an abnormality of number of the X chromosomes. Nine had a 47, XX Y constitution, two were mosaics with a 47, XXY cell line, while the remaining baby, a phenotypically
normal male, had a 46, XX constitution in blood leucocytes and skin and testes fibroblasts (case
fully described in Stewart et al. 1969). We recently re-examined the chromosomes from this
babys peripheral blood using the fluorescent banding technique but could find no evidence of
a translocation involving the Y chromosome, the banding pattern being indistinguishable from
that of a normal female. The mean birth length of the singletons of more than 38 weeks gestation
was 51.1 cm, mean birth weight 3.27 kg. Genital abnormalities were not common, only one infant
having an abnormally small penis, while another full-term infant had incompletely descended
testes.
(3) Sex chromosome abnormalities

phenotypic females (Appendix Tables 3 A and B )


Among the 3831 females from whom satisfactory results were obtained 7 (0.18 %) were found
to have an abnormality of the sex chromosomes. Five had a 4 7 , X X X constitution, one was
45, X/46, XX mosaic, while the remaining patient had a 45, X/46, X Y constitution. The five
infants with the 47, XXX karyotype formed a more abnormal group clinically than the males
with sex chromosome abnormalities. There was evidence of intra-uterine growth retardation,
the mean weight being 2.75 kg. (control females 3.30 kg.), the birth length 48.1 cm. (control
females 50.1 cm.). Two infants had major congenital abnormalities and two had bilateral clinodactyly .
The two infants with mosaic sex chromosome constitutions, 45, X/46, XX and 45, x / 4 6 , X Y
were both phenotypically normal females.
(4) Autosome trisomics and triploids (Appendix Tables 4 A and B )

Among the 11,680 babies successfullykaryotyped, 19 (0.16 yo)were found to have one additional
autosome present in all the cells studied while one baby was found to have a 69, XX Y constitution
in all 30 cells studied from blood and in both cells counted and analysed from a culture of skin
fibroblasts. All 17 babies with an additional G-group chromosome had the clinical features
associated with Downs syndrome while both infants with an additional chromosome 18 had the
clinical features associated with Edwards syndrome.
The triploid infant showed no evidence of mosaicism in either blood or skin fibroblasts. While
only two cells from the latter tissue were of good enough quality to count and analyse an approximate count was done on many more and all appeared to be triploid.
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The chromosomes of the infant and the parents were stained by both the fluorescent and ASG
techniques in the hope that there might be polymorphism features in the parents which would
allow us to determine the origin of the triploidy. Unfortunately no informative markers were
present so the origin of the triploidy remains obscure. Clinically the baby showed many of the
features describedin the other 11liveborn triploids reported (for summary see Walker et al. 1973).
The birth weight was 1.47 kg., birth length 40.5 cm. and occipito-frontal circumference 28 cm.
No details of the placenta are known but the cord contained three vessels. The facies was abnormal
with a beaked nose, short palpebral fissures and hypertelorism. The palate was intact, the ears
normally situated, and no murmurs were heard during the 5 hr. of his life. The genitalia were
abnormal with a hypoplastic penis, the right testis was not palpable but the left was normal in
size and situation. Both hands showed syndactyly of the third and fourth digits with a single
nail, the right hand had a single transverse palmar crease while the left hand had a bifid but
abnormal crease. The feet were also symmetrically abnormal, being of rocker-bottom type, with
prominent calcaneii; the third toe was the longest, the 2nd toe was deviated medially, the 4th
and 5th toes showed syndactyly, the latter digit being hypoplastic.
( 5 ) Euploid structural rearrangements of the autosomes (Appendix Tables 5 A and B )

Among the 11,680 babies karyotyped, 22 (0.19%) were found to have a euploid structural
abnormality of the autosomes; ten having a Robertsonian translocation, ten areciprocaltranslocation and the remaining two a pericentric inversion. Six of the Robertsonian translocations
involved two D-group chromosomes and in three cases where it was possible to identify the
translocated chromosomes they were a 13 and a 14. The abnormal chromosome in patient 178170
could clearly be seen to be dicentric and the greater part of the short arms of both chromosomes
appeared to be incorporated in the translocated chromosome. I n contrast to the abnormal
chromosome in all other patients with a Robertsonian translocation, the dicentric chromosome
in patient 178/70appeared to be unstable. I n five cells of the 60 studied the dicentric chromosome
had broken, giving rise to two acrocentric chromosomes, while in one cell the dicentric was
absent altogether. The remaining four Robertsonian translocations all involved a group-D and
a group-G chromosome. Two were between a 14 and a 21, one was between a 14 and a 22 and
one between a 13 and a 22. All four translocations were familial and there was no evidence of
Downs syndrome or any other congenital malformation in any of the relatives of the babies.
It has been possible to identify the chromosomes involved in nine of the ten reciprocal translocations. However, as two of the babies with a translocation are full sibs, this means that we have
identified the chromosomes in only eight independent translocations. Of the 16 break-points
involved two are on chromosome iq, four are on chromosome 11, one on the short arm and
three on the long arm, while two are on 13q. On these limited data it is difficult to say whether
or not the cluster of break-points represents a significant non-random distribution of breakpoints on chromosome 11 (for full discussion see Jacobs et al. 1973).
The remaining two babies in this class both have a pericentric inversion; in patient 161/72
it is a small inversion round the centromere of chromosome 2, while in patient 171/72 it is a large
inversion involving the greater part of chromosome 1.
Clinically, there was little of note at birth in any of the babies in this category, the great
majority being entirely normal. I n case 47/72 the syndactyly of the 2nd and 3rd toes of both
feet was present in the father, who had the identical translocation, but was also present in other

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chromosomally normal members of the family. The laxity of the hip joints in case 173/71 resolved
rapidly with abducted posture of the hips.
(6) Aneuploid structural abnormalities of the autosomes (Appendix Tables 6 A and B )

Only five babies (0.04%) were found to have an aneuploid structural abnormality of the
chromosomes. I n three of these babies the abnormality was present in all the cells studied, while
the remaining two were mosaics with a normal cell line.
One baby (l08/69) had an unbalanced Robertsonian translocation, being effectively trisomic
for a D-group chromosome. Clinically this child had the features of Pataus syndrome, and it
therefore is reasonable to suppose that he was effectively trisomic for chromosome 13.
The second non-mosaic baby (162/70) had both a pericentric inversion of a chromosome 18,
inherited from her mother, and a small additional abnormal chromosome which appeared to be
the result of crossing over within the inversion loop during the first meiotic division of oogenesis.
Subsequent non-disjunction of the resulting recombinant chromosome and the original inverted
chromosome has given rise to the observed complement. The baby, therefore, is effectively
trisomic for much of chromosome 18 and tetrasomic for a part of the short arm. Clinically this
baby showed evidence of intra-uterine growth retardation, with a birth weight of 2.15 kg.,
crown-heel length of 46 cm., and occipito-frontal circumference of 31 cm. at 40 weeks gestation.
Both palpebral fissures sloped downwards laterally and the left eye was unusually prominent.
The ears were low set and there was an accessory auricle on the left side. A systolic murmur was
audible in the pulmonary area a t the age of 2 weeks. There was marked muscular hypotonia.
The genitalia and the extremities showed no unusual features. The baby failed to thrive, showed
progressive emaciation and died aged 5 weeks. At autopsy the cardiac abnormality was identified
as a patent ductus arteriosus and no other gross abnormalities were found.
The third non-mosaic baby (68/72) had an additional small metacentric chromosome about
half the size of the G-group chromosomes. There was no evidence of satellites on either arm of
the supernumerary chromosome. Staining with both quinacrine dihydrochloride and the ASG
technique did not help to clarify the origin of the abnormal chromosome, which was not present
in either parent. Clinically, this baby was unremarkable at birth.
The remaining two infants in this category were mosaics. I n the first one (3/70) 63 out of 80
cells analysed had 47 chromosomes, the additional chromosome being extremely small. However,
in a number of cells the extra chromosome could be seen to be a ring. The origin of this chromosome
is obscure and the baby is clinically unremarkable.
The remaining baby (75/71) with a mosaic constitution had 46 chromosomes in all his cells.
However, in 60 cells scored only ten had a normal male complement, the remaining 50 having
a chromosome 16 with a fairly large translocation on to the distal part of the long arm. The
translocated material had a rather characteristic banded appearance, but in spite of this it was
not possible to be sure of its origin. Clinically the baby had an unusual face, with a tall forehead,
palpebral fissures slanted downwards laterally and asymmetry of the jaw, the left side being
hypoplastic. The right shoulder was smaller than the left, and while the left testis was normal in
size and position the right testis was fixed a t the external ring in the groin although normal in
size. The hands were abnormally broad, with thickened fingers and single transverse palmar
creases, and they developed flexion deformities with overriding of the 2nd and 4th fingers. The
baby was markedly hypotonic, had a! high-pitched cry, and showed incoordination of sucking

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and swallowing. However, some improvement has occurred, but at the age of 1 year the baby
shows a moderate degree of mental retardation.
(7) The unusual variants (Appendix Tables 7 A and B )

Four babies were found with unusual chromosome constitutions which we have considered as
variants rather than abnormalities.
The first of these babies had 46 chromosomes, and, in orcein preparations, many cells appeared
to be missing a group-G chromosome which was replaced by a group-P chromosome. I n the
remaining cells the abnormal chromosome could be distinguished from the group-F chromosomes
either because it appeared in association with other acrocentric chromosomes or because the
chromatin of one pair of arms tended to lie parallel to one another. We therefore concluded that
the abnormal chromosome was a G chromosome with long short-arms, which varied from all
other similar chromosomes we had seen on orcein preparations by virtue of its size and the fact
that the long short-arms never appeared thin and attenuated. I n all the Gph+ and Dph+
chromosomes which we had previously examined with the Q , G and C banding techniques the
ph+ region appeared negative with both fluorescence and Giemsa and rather variable and
non-remarkable with the centromeric heterochromatin technique. However, the long short-arms
on this babys unusual chromosome 22 had a bright fluorescentband just proximal to the satellites
and had a rather dark staining band in a similar position demonstrable by both the G and C
banding techniques. The chromosome has no obvious phenotypic effect and has been traced
back for at least three generations in the relatives of this child. This chromosome could be
interpreted either as ( a )a variant which is rare in the Scottish population but which may be more
common in other populations (in this respect it may be relevant that this child is of Ashkenasic
Jewish ancestry) or ( b )the result of an interstitial translocation in the short arm of chromosome 22,
from an unidentified donor chromosome.
The second baby in this group is somewhat similar to the first in that she had 46 chromosomes
and appeared to be missing an acrocentric chromosome, in this case a D, which was replaced by
an additional C-group chromosome. I n orcein preparations the abnormal chromosome could,
in some cells, be distinguished from the remainder of the C group because of a slight constriction
on the proximal region of the short arm. However, it differed from other variant D-group chromosomes with long short-arms in that it had no satellites, the chromatids of the short arms never
lay in close opposition to one another and never appeared thin and attenuated. When this
chromosome was stained with the Q and G banding techniques, the long short-arms were
negative. However, with the C-banding technique the entire length of the short arm stained
intensely. Thus this chromosome also differs, both in orcein and C-banded preparations from the
usual variant D-group chromosomes with long short-arms. The same chromosome was found
in the mother of the infant, but it was not possible to study any maternal relatives. The chromosome appeared to be without phenotypic effect and could be interpreted either as ( a )a variant
which is rare in the Scottish population or ( b ) the results of a translocation involving a heterochromatic region from an unidentified donor chromosome.
The remaining two babies have a similar unusual chromosome, namely a metacentric group4
chromosome resulting from a pericentric inversion involving the heterochromatic region of
chromosome 9. It is clearly a similar chromosome to that described by Lubs & Ruddle (1971) and
Gerald & Walzer (1970). Lubs and Ruddle found the chromosome to be more prevalent among

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Negroes than among Caucasians. Although we observed both chromosomes on orcein preparations they were found in the latter part of the survey and we were undoubtedly influenced by the
knowledge of the existence of such a chromosome in other populations, and by the fact that its
presence could be confirmed by the banding techniques. We must have failed to observe many
other similar chromosomes in the early part of the survey and to include these two observations
in any incidence figures would be misleading. Furthermore, we consider it a variant rather than
an abnormality because, although it is difficult to see how it originated without chromosome
breakage and reunion (this is not true of the other variants), it does involve a region of the
chromosome which is heterochromatic and which is known to be polymorphic with respect to
length. Relatives of both these children have been found to have the same chromosome, which
is without obvious phenotypic effect.
I n the absence of any information on the nature or origin of the four unusual chromosomes,
they will, for the present, be considered as variants rather than abnormalities.

DISCUSSION

Trie amormalities reported in this paper were detected on cultures of peripheral blood leucocytes or skin fibroblasts stained with lactic-acetic-orcein. This procedure should detect all nonmosaic individuals with an abnormal number of chromosomes but only a proportion of mosaic
individuals and those with an abnormality of structure of the chromosomes associated with
a normal chromosome number. The proportion of mosaics detected will depend on the variety
of tissues studied, the number of cells examined from each tissue, and the proportions of the
various cell lines present in the observed tissues. The proportion of individuals having 46 chromosomes with a structural abnormality of one or more chromosomes who are recognized will
depend on the staining technique used, the method of analysing the chromosomes, the acuity of
the observer and the rigorousness of the checking procedure. Clearly all these parameters vary
from laboratory to laboratory. I n an effort to minimize their effects we have, when comparing
the results from different newborn surveys, ( a )restricted our comparison to surveys of consecutive
hospital newborn babies where the initial screening technique has utilized blood cells stained
by a non-banded technique and ( b )included all babies shown to be mosaics in the other column,
in an attempt to make the frequency of individuals with an additional or missing chromosome
more directly comparable between surveys.
We have been able to find, in addition to the data published here, five surveys of newborn
babies which meet the above criteria, namely those of Friedrich & Nielsen (1973) from Denmark;
Sergovich et al. (1969) from Ontario, Canada; Hamerton et al. (1972 and personal communication)
from Winnipeg, Canada; S. Walzer and P. S. Gerald (personal communication) from Boston,
U.S.A., and Lubs & Ruddle (1970) from New Haven, U.S.A. The results from these five surveys,
together with the Edinburgh data, are given in Appendix Tables 8-12.
Consideration of the males with an abnormal sex chromosome constitution (Appendix Table 8)
shows the frequency of 47, X Y Y males to be very similar in three of the six surveys, but in the
remaining three surveys their frequency ranges from 0.03 to 0.37 yo.All of these latter surveys
are of North American populations and it seems possible that the differences are due to the
small numbers tested and inter-laboratory variations in technique, rather than real differences
in frequency of X Y Y males, although the latter possibility cannot be excluded, The frequency

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of 47, XX Y males is comparable in all six surveys and in the combined totals the incidence of
X Y Y and XXY males is approximately equal, while the overall incidence of sex chromosome
abnormalities in males is 0.26 yo.
Females were tested in only five surveys and the results are shown in Appendix Table 9.
Liveborn 45,X females are rare, only two being found among the 14,976 females examined.
However, all five mosaics detected had a 45, X cell line, emphasizing perhaps that the majority
of individuals with a 45, X cell line who survive to term are indeed mosaics, the vast majority
of 45,X conceptuses being spontaneously aborted (Carr, 1970). The majority of females with
an abnormal sex chromosome constitution have an additional X . The frequency of such 47, XXX
individuals is comparable in three of the surveys but is low in the Winnipeg survey. However,
more data and more details of the composition of the study populations are needed before it can
be said whether or not such differences are real. The overall incidence of sex chromosome
abnormalities in newborn females is 0.13 yo,which is half the comparable figure for males.
The frequency of autosome trisomies is found to be O*12yo (Appendix Table 10) and, as
expected, the great majority of these are due to trisomy 21, there being only three babies found
with trisomy D and four with trisomy E among the 43,558 studied. The incidence of the autosomal
trisomies is fairly comparable in all six surveys.
The data on euploid structural rearrangements of the autosomes are given in Appendix Table 1 1.
The incidences are remarkably consistent for four of the surveys, while one, Ontario, is rather
low and one, Denmark, is rather high. However, these differences may well be due to sample size
rather than true geographical variation. The frequency of Robertsonian translocations and
detected reciprocal translocations is approximately equal and this is true for all surveys where
substantial numbers of babies have been tested, while the number of detected pericentric inversion is about 10 yoof this figure. The overall incidence of euploid structural rearrangements
is 0.19%, this class of aberration being second only to the sex chromosome abnormalities in
males in its frequency.
The data on aneuploid structural rearrangements of the autosomes are summarized in Appendix
Table 12 and it can be seen they are uncommon, only 21 being observed among the 43,558 babies
tested. No child with translocation Downs syndrome was found, both aneuploid Robertsonian
translocations being of the 46, - D, D/D class. Five of the 21 babies were mosaics with a normal
cell line, while in eight of the remainder the abnormality took the form of a small supernumerary
chromosome which frequently has no detectable effect on the phenotype. Only eight (0.02%)
babies with an aneuploid structural rearrangement of the chromosomes had an abnormality of
the phenotype recognizable at birth and attributable to the chromosome imbalance. Aneuploid
structural rearrangements of the chromosomes detectable with non-banding techniques therefore
appear to be a rather rare cause of congenital malformations.
I n Appendix Table 13 the frequency of all four classes of chromosome aberration obtained
from the six surveys is given. The figure for sex chromosome abnormalities is an average of the
male and female figure and the total incidence for all aberrations detectable on non-banded
preparation is 0.56 yo.
With the exception of the males with a 46,Xinv(Y) constitution, all the sex chromosome
abnormalities and autosome trisomies are the result of a fresh mutation. I n the case of the
non-mosaic individuals this presumably occurred in the germ cell of one or other parent. I n the
mosaic individuals the mutational event may have occurred either in a parental germ cell or in

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a cell of the early zygote. However, the mosaics are so few in number by comparison with the
non-mosaics that their inclusion or exclusion makes virtually no difference to the germ cell
mutation rate, which is 14 x
per gamete per generation, for numerical errors of the chromosomes which result in the birth of a liveborn child.
While the vast majority of sex chromosome and autosome numerical abnormalities arise de
nowo, most structural rearrangements are inherited. I n order to determine the proportion of
structural rearrangements in the newborn which was due to a new mutation, we abstracted from
the total data 46 non-mosaic babies who had a structural rearrangement and in whom the
chromosome status of both parents was recorded. As can be seen from Appendix Table 14, ten
of the euploid babies were mutants, the majority having a reciprocal translocation, while two
of the aneuploid babies were mutants. Thus it appears that 20 % of the euploid and 33 yoof the
aneuploid structural rearrangements can be attributed to new mutations. The mutation rate
for euploid structural rearrangements is therefore 1.9 x
per gamete per generation and for
aneuploid structural rearrangements is 0.46 x
per gamete per generation, where the mutant
gamete gives rise to a liveborn infant. These are very similar estimates to those calculated previously by Jacobs (1972) on less extensive data.

SUMMARY

The results of chromosome analysis on a consecutive series of 11,680 newborn infants, 7849
males and 3831 females are reported. Male sex chromosome abnormalities occurred with a
frequency of 0.30 % compared with a frequency of 0.18 % in females. The incidence of autosomal
trisomies was 0.17 %, of euploid autosome structural rearrangements 0-19 %, and of aneuploid
autosome structural rearrangements 0.04 yo.
The results are compared with those of five other similar surveys, there being over 43,000
babies in the combined series. It is concluded that, on the whole, the results from all the series
are consistent and the combined data show that, among consecutive liveborn babies, 0.56 %
have a chromosome aberration detectable with non-banded techniques.
We are grateful to Dr John Hamerton, Winnipeg, and Dr Stanley Walzer, Boston, for allowing us to
quote their unpublished observations. We would also like to thank the nursing and medical staff of both
the Eastern General Hospital Nursery and the Western General Hospital Nursery, and the staff, both past
and present, of the Cytogenetics Section of the Medical Research Councils Clinical and Population Cytogenetics Unit, without whose excellent co-operation and assistance the present work would not have been
poasible.
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chromosomes involved in Down's syndrome (trisomy 21) and chronic myeloid leukaemia (Phl) by fluorescence. Nature, Lond. 230, 167.
RATCLIFFE,S. G., STEWART,A. L., MELVILLE,M. M., JACOBS,
P. A. & KEAY,A. J. (1970). Chromosome
studies on 3,500 newborn male infants. Lancet i, 121.
ROBINSON,
J. (1971). Y chromosome fluorescence in buccal mucosa cells: a study on a newborn population.
Ann. Hum. ffenet.35, 61.
SERUOVICH,
F., VALENTINE, G. H., CHEN, A. T. L., KINCH,R. A. H. & SMOUT,
M. S. (1969). Chromosome
aberrations in 2159 consecutive newborn babies. New En$. J. Med. 280, 851.
STEWART,
A. L., KEAY,A. J., JACOBS,
P. A. & MELVILLE,
M. M. (1969). A Chromosome survey of unselected
live-born children with congenital abnormalities. J. Pediat. 74, 449.
SUMNER,A. T., EVANS,
H. J. & BUCKLAND,
R . A. (1971). New technique for distinguishing between human
chromosomes. Nature New Biol. 232, 31.
WALKER,S.,ANDREWS,
J., GREUSON,
N. M. & GAULT,W. (1973). Three further cases of triploidy in man
surviving to birth. J. Med. Genet. 10, 135.

Cytogenetic study of newborn infants

369

Appendix Table 1A. Cytogenetic data :X-chromatin-negative males with an


abnormal sex-chromosome constitution
Y-chromatin (buccal smear)
A

>

DuMul- Two
M.R.C. Single plex Double tiple groups Tissue Total
-(%i
studied cells

290167
167168
16/69
161169
194169
278169
246170
298170
61/71
197172

179170

24

21

19

11

Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood

30
30
30
30
30
30
30
30
30
30

16

Blood
Skin

30
30

Blood

50

16

19

20

Appendix Table 1B. Clinical data :X-chromatin-negative males with an


abnormal sex-chromosome constitution
Date of
birth

Gestation

Birth
weight
(kg.)

Birth
Parental age
length , -A- (
(cm.) Father Mother

vii. 67

35

2'1 I

45

25

25

viii. 68
22. i. 69
28.vii. 69
25. ix. 69
6. xii. 69
17. ix. 70
26. xi. 70

42
40
39
42

50

38

33

53
53
50

22

20
21
25

52

23
29
26

40
37

4.01
3'76
2.78
3'29
3'94
3'23
2.15

50

20

46

27

20
21

30. iv. 71

41

3.12

52

35

32

4. vii. 72

40

3'72

55

22

23

30. vi. 70
12.vi. 71

38
40

3'74
2.37

54

40
I9

33

25.

Comments

D.Z. twin. No congenital


malformations

I.

40

50

22

20

No congenital malformation
No congenital malformation
No congenital malformation
No congenital malformation
No congenital malformation
No congenital malformation
D.Z. twin. No congenital
malformation
Bilateral clinodactyly .
Single crease right 5th digit
No congenital malformation
Double upper alveolar margin
No congenital malformation

PATRICIA
A. JACOBS
AND OTHERS

370

Appendix Table 2A. Cytogenetic data: X-chromatin positive males with an


ablzomnal sex-chromosome constitution
X-Chromatin
(buccal smear)
M.R.C., -A- (
reg. no. yo -ve

Count distribution
Total
cells

yo +ve

Tissue

67
67
53
37
61

33
33
47
63
39

69

31
42
I8

Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Skin
Blood
Blood

60
30
30
30
30
30
30
50
50

Blood
Skin
Testes

30
30
60

58
82

[ 00

72

28

c 46

46

47

Karyotype

Parental
karyotype
&
Father Mother
N
N

N
N

N
N

I0

I0

30'1
23
59)

7
I

42

46,XY/47,XXY

46JX

N
N
N

N
N

I0

Appendix Table-2B. Clinical data: X-chromatin positive males with an


abnormal sex-chromosome constitution
M.R.C.
reg. no.

Date
of birth

Gestation

Birth
weight
(kg4

Birth
length
(cm.)

211167

6. v. 67

40

3'14

51

43

40

316/67
46/69
5170
42/70
180170
289170
292171
147172

15. ix. 67
18. ii. 69
7. i. 70
15. ii. 70
7. vii. 70
31. x. 70
9. xi. 71
4. v. 72

41
42
37
40
42
40
40
30

3-58
2.70
3'31
3'72
3'56
3'57
2.62

53
50
49
54

24
33
24
30

24
33
26
29

50

22

22

I .08

54
49
38

25
I9
35

I9
I8
31

19.v. 72
18. vi. 72

39
41

2-94
3-62

48
53

29
31

25
27

Small penis. Normal testes


Normal genitalia

7. iv. 67

39

2.82

51

33

27

Penis normal. Bilateral


hydroceles

Mosaics
148172
230172
xx male
167167

Parental age
A
-r,-

Father Mother

Comments
Normal genitalia. Bilateral
radial nerve paralyses
Incompletely descended testes
D.Z. twin. Normal genitalia
Normal genitalia
Normal genitalia
Normal genitalia
Normal genitalia
Normal genitalia
Intra-abdominal testes. Died
age 7 hr.

Cytogenetic study of newborn infants

371

Appendix Table 3A. Cytogenetic data: female infants with an abnormal


sex-chromosome constitution
X-Chromatin
(buccal smear)
M.R.C.
>- - ,
reg. no. -ve

23/70
308170
12/71
58/72
207172
266171
224172

(yo) + (%)

26
63
53
27
Chromatin
42
43
29
54
IOO

97

Count
distribution

+ + (%)
11

20

+ +ve

15
17
o
o

Tissue
Blood
Blood
Blood
Blood
Blood
Blood
Blood

Total r--------,
cells 45

30
30
30
30
30
50

50

46

12
21

38
29

47
29
30
27
30
30

Karyotype

47,xxx
47,xxx
479xxx
47,xxx
47,xxx
45,X/46,XY
4s9X/46,XX

Parental
karyotype
&
Father Mother

N
N
N
N

N
N
N
N

N
N

N
N

Appendix Table 3B.Clinical data: female infants with a sex-chromosome abnormality


M.R.C.
reg. no.

Date of
birth

Gestation

Birth
weight
(kg.)

Birth
length
(cm.)

Parental age

23/70
308170

I.

ii. 70
30.xi. 70

40
38

353
239

50
48

46
23

42

12/71

29. i. 71

36

2.92

48

37

33

58/72

22.

ii. 72

38

210

47

21

19

207172

26. vii. 72

40

2.82

51

40

Mosaics
266171
224172

30. vii. 71
6. viii. 72

42
38

3.64
2.78

54
46

37
28

34
26

, -A- r

Father Mother
21

Comments
No congenital abnormality
Congenital dislocation right hip.
Hypocalcaemic convulsions
Moderate respiratory distress
syndrome
Patent ductus arteriosus.
Bilateral clinodactyly
Upward slanting eyes.
Bilateral clinodactyly

No congenital abnormality
No congenital abnormality

PATRICIA
A. JACOBS
AND OTHERS

372

Appendix Table 4A. Cytogenetic data: infants with an abnormal number of autosomes

Blood or
reg. no.

Tissue
studied

Total
cells

N 48
N 533
N 876
N 929
NE 1323
N 2018
N 2063
NE 2743
NE 3180
N 5165
NE 4394
N 5585
N 5642
NE 6166
N 7204
N7906
NE 6908
125/70
42/71

Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood
Blood

30

30417I

Blood
Skin

,
Karyotype

30
30
30
30
30
30
30
30
30
30
30
30
30
30
30

47,XY, + G
47,XY, + G
47,XY, G
47,XY, + G
47,XY, + G
47,XY, + G
47,XY, G
47,XY, + G
47,XX, G
479XY9 + G
4 7 J Y , +G
47,XX, G
47,XY, G
479xx, + Z I
47,XY, + 2 1
47,XY, + Z I
47,XY, + Z I
479XY, I8
4 7 X X , 18

30

69, XX Y

I0

I0
I0

+
+

+
+

+
+

Parental
karyotype
&
Father Mother

N
N
N
N
N
N
N
N
N
N
N
N

N
N
N
N
N
N
N
N
N
N
N
N
N
N

Appendix Table 4B. Clinical data: infants with an abnormal number of autosomes
Birth
weight
(kg.)

Birth
length
(em.)

35
39

2.29

41

327

50

6. v. 68
4. vi. 68

37
38

252

49
48

25

25

2-49

38

42

NE 1323

24. vii. 69

39

323

50

45

46

N 2018
N 2063
NE 2743
NE 3180
N 5165

I. xi. 69
30. xi. 69
29. vi. 70
4. x. 70
13. ii. 71

38
37
37
40

2.19
330
2-81
355

48
36
35
24
39

41
39
39

39

45
53
45
49
53

NE 4394

5 . iv. 71

40

309

51

42

45

N 5585
N 5642

28. v. 71
12. vi. 71

39
40

2.96
304

49
48

40
29

28

NE 6166

14. ii. 72

38

2.88

47

32

31

N 7204
N 7906
NE 6908
125/70

24. ii. 72
28.viii. 72
3 I. viii. 72
13. v. 70

40
39
40
39

3-36
2.49
307

49
49
51

32
26

1-52

36
27
24
45

42/71

I.

iv. 71

39

222

45

34

29

304171

7.xii. 71

33

147

40

25

2.5

Blood or
reg. no.

Date of
birth

Gestation

N48
N 533

22. iv. 67
8. xii. 67

N 876
N 929

212

Parental age
&

Father Mother

35
33

27
32

I9

37

39

21

38

Comments
Downs syndrome. D.Z.twin
Downs syndrome. Congenital heart disease
Downs syndrome
Downs syndrome. Congenital heart disease
Downs syndrome. Congenital heart disease
Downs syndrome
Downs syndrome
Downs syndrome
Downs syndrome
Downs syndrome. Congenital heart disease
Downs syndrome. Congenital heart disease
Downs syndrome
Downs syndrome. Congenital heart disease
Downs syndrome. Congenital heart disease
Downs syndrome
Downs syndrome
Downs syndrome
Edwards syndrome. Died
age zohr.
Edwards syndrome. Died
age 53 days
Multiple congenital
abnormalities. Died
age 5 hr.

Cytogenetic study of newborn infants

373

Appendix Table 5A. Cytogenetic data :infants with an euploid structural


rearrangement of the autosomes
Parental
karyotype

Count distribution
M.R.C. Tissue Total
reg. no. studied

Father

Mother

Ab
Ab
Ab
Ab
Ab
N
Ab

N
N
N
N
N
N
N
N
N

77/68 Blood
148/69 Blood
178/70 Blood
209/71 Blood
47/72 Blood
151/72 Blood
96/69 Blood
1o7/71 Blood
173/71 Blood
229/71 Blood
26/69 Blood
177/69 Blood
22/70* Blood
z09/70 Blood
233/70 Blood
60/71 Blood
178/71* Blood
237/71 Blood
190/72 Blood
231/72 Blood
161/72 Blood
171/72 Blood

N
N
N
N
N
N
N

Ab
Ab
Ab
Ab
Ab
Ab

Appendix Table 5B. Clinical data: infants with an euploid structural


rearrangement of the autosoms
Date of
birth

Birth
weight
(kg.1

Birth
length
(em.)

Parental age
Father Mother

14. iii. 68
19. vi. 69
27. vi. 70
17. viii. 71
14. ii. 72

3.61
3.16
3'75
3'35
3.02

50

v. 72
72
31. v. 72
7. vii. 71
15. ix. 71
3. ii. 69
24. viii. 69
5. ii. 70
I 3. vii. 70
26. viii. 70
21. iv. 71

4-36
3'57
3.36
3'50
3.28
3-17
3-62
3'30
3.06
3'09
3'78

53
54
53
49
51
49

42
27
29

52

40

4=

51
51
50

20

52

42

I9
30
24
33

2 . vii. 71
4. x. 71
30. vi. 72
19. viii. 72
20. v. 72
I. vi. 72

3'71
2.94
3.88
3-06
3'27
3'83

53
54

21

20

20.

2 2 . iv.

51
54
50

51

52

48
51

56

Sibs.

30
31
40
37
26

29
31
33
33
26

26
30

23

25

24
34

32
29

24
27
31
31

28

25
27

26
23
2.5

24
28

Comments

No congenital malformation
No congenital malformation
No congenital malformation
No congenital malformation
Syndactyly 2nd and 3rd toes
of both feet
No congenital malformation
No congenital malformation
No congenital malformation
Laxity of right hip
No congenital malformation
No congenital malformation
No congenital malformation
No congenital malformation
No congenital malformation
No congenital malformation
Left facial paralysis.
Fracture left clavicle
No congenital malformation
No Congenital malformation
No congenital malformation
No congenital malformation
No congenital malformation
No congenital malformation

PATRICIA
A. JACOBS
AND

374

OTHERS

Appendix Table 6A. Cytogenetic data: infants with an aneuploid structural


abnormality of the autosomes
count
distribution

Parental karyotype

M.R.C. Tissue Total r-A-,


reg. no.studied cells c 46 46 47

108169
3/70
162170
75/71
68/72

Blood
Blood
Blood
Blood
Blood

20

80
30
30
30

Karyotype

- 46,XY, -D, +t(DqDq)


16 63 46,XX/47,XX+r
- 30 47,XX,inv(18) (p1q21)+rec(18)dup p
60 - 46,XY/46,XY, 16q+
- 30 47,XY,+mar
20

Father

Mother

N
N

N
N
N

46,XX,inv(18)(prqzr)
N

Appendix Table 6B. Clinical data: infants with an anewploid structural


abnormality of the autosomes
M.R.C.
reg. no.

Date of
birth

Gestation

Birth
weight
(kg.)

108169

13. v. 69

36

2.23

3/70
I 62/70

5. i. 70
16. vi. 70

40
40

2.62
2-15

75/71

8. v. 71

41

3'05

68/72

9. iii. 72

Birth
Parental age
length, -A- (
Comments
(cm.) Father Mother
Multiple congenital abnor46
23
malities. Died age 36 hr.
No congenital abnormalities
49
34
42
Multiple congenital abnor46
38
42
malities. Died age 38 days
Multiple minor congenital
51
28
25
abnormalities. Marked
muscular hypotonia
No congenital abnormality

Appendix Table 7A. Cytogenetic data: infants with an unusual chromosome variant
count
distribution
M.R.C.
reg. no.

Tissue
studied

Total
cells

296167
102172
I92/72
226172

Blood
Blood
Blood
Blood

30
30
30

, -A- (

I0

45

46

30

29

29

Karyotype

Parental
karyotype
&
Father Mother

46,XX, 22p
46,XX,15p+
46, XX, inv(9)(PI I qI 3)
~~,XX,W~)(PII~

I0

Ab
N
Ab
IAb
Z)

N
Ab
N
N

Appendix Table 7B. Clinical data: infants with an unusual chromosome variant
M.R.C.
reg. no.

Date of
birth

Gestation

296/71
102172
192172
226172

30. xi. 71
8. iv. 72
I. vii. 72
8. ix. 72

38
40
39
42

Birth
weight
(kg.)

Birth
length
(cm.)

(
'
,

3'32
3'96
3'72

50
54
53
55

31
34
27
25

4 1 2

Parental age
Father Mother

26
32
26
25

Comments
No congenital abnormality
No congenital abnormality
No congenital abnormality
No congenital abnormality

Cytogenetic study of newborn infants

375

Appendix Table 8. Males with an abnormal sex chromosome


constitution - consecutive liveborn babies

--- Abnormalities

Series

Total
XYY
mdes
examined No.
yo

Edinburgh (U.K.)
Arhus (Denmark)
Ontario (Canada)
Winnipeg (Canada)
Boston (U.S.A)
New Haven (U.S.A.)

7,849
2,615
1,066
5,828
9,048
2,176

Total

28,582

XXY

Other

yo

No.

Total

No.

yo

No.

yo

0.30
0.38
0'45
0.17
0.19
032
0.26

10

0.13

0.11

5*

0.06

24

3
4
3
3
3

0.11

0.15

3t

0.11

0.37

0.09

10

0.05

0.10

I$

0.02

10

0.03
0.14

6
6
4

0.07
0.18

8J
-

0.09
-

0.09

30

0.10

17

0.06

17
7
73

26

* 46, XX. 46, X Y/47,X Y Y. pj.X/46,XY/47, X Y Y.


t 45,X/46,XY. 46,Xinv(Y). 46,Xinv(Y).

46, XY/47, XXY. 46, X YI47,XXY.

$ 46,XY/47,XYY.
J 46,XY/47,XYY. 46,XX. 47,XXp-Y. q6,Xinv(Y). 46,Xinv(Y). 46,Xinv(Y). 46,Xinv(Y).
46,XYq-.

Appendix Table 9. Females with an abnormal sex-chromosome


constitution - consecutive liveborn babies
Abnormalities
I

Total
females ,A--f
examined No.

Series
Edinburgh (U.K.)
Arhus (Denmark)
Ontario (Canada)
Winnipeg (Canada)
Boston (U.S.A).
New Haven (U.S.A.)
Total

xo

xxx

Other

r-'----,

No.

yo

No.

yo

No.

2*

0.05

0.04

0.21

5
-

0.04
-

0.07

0.18

0.03

20

0.13

3,831
2,434

0.13

0.04

0.12

1,015

53519

0.04

2$

2,177

0.05

14,976

0.01

Total
r-A-,

f
~
,

It

0.14

13

0.09

%
0.18

Appendix Table 10. Autosome trisomics - consecutive liveborn babies


Abnormalities
A

Series

Total
babies
examined

Edinburgh (U.K.)

I I ,680

Arhus (Denmark)

5,049
Ontario (Canada)
2,081
Winnipeg (Canada) I 1,347
Boston (U.S.A.)
9,048
New Haven
4,353
(U.S.A.)

Total

43,558

+D

+E

r-A--

No.

I
-

,--'---,

+G

Other

No.

No.

0.02

0.02

17
4

0.15
0.08

2
12t

0'10
0.11
0.08

0.01

0.01

0.02

0.02

0.01

0.01

Total

r-A-,

7
3
45

No.

I*

0.01

12

0.01

0.07

0.10

NO.

20

0.17

0'10
0'10

0.13

15
7
5

0'00

54

0'12

0.08
0'11

69,XXY.
Includes one 47,XY, +21,inv(19) also scored in Table
1 4 7 , X Z +c.

t
25

11

as an inversion.
JGE

37

PATRICIA
A. JACOBS
AND OTHERS

376

Appendix Table 1 1. Euploid autosome structural rearrangements - consecutive liveborn babies


Robertsonian translocations
A

Total
babies
examined

Series

D/G

,A
--(

Edinburgh (U.K.)
11,680
k h u s (Denmark)
5,049
Ontario (Canada)
2,081
Winnipeg (Canada)
11,347
Boston (U.S.A.)
9,048
New Haven (U.S.A.) 4,353
Total
43,558

-I

D/D

Reciprocal
and
insertional
translocations

Inversions
A
No.
%

f
'
,

No.

yo

No.

yo

6
7

0.05

0.03

10

0.14

0.02

0.09
0.14

0.05

10

0.09
0.06

0.05

31

0.07

No.

0.02

22

0.02

16

0.19
032

0.05

0.10

I*

0.01

22

0.19

0.02

0.01

14
6
81

0.15
0.14
0.19

0.02
0.02

0.06
0.07

0.02

36

0.08

47,XY, +21,inv(19) also scored in Table

No.

11

Total

10 as

a trisomy-21.

Appendix Table 12. Aneuploid autosme structural rearrangements - consecutive liveborn babies
Robertsonian Reciprocal
SuperTotal
transtransbabies
locations locations Inversions Deletions numerary Other
e
x
A
A
A
*
A
r
J
C
7
amined No. % No. % No. % No. % No. "/b No. %

Series

Edinburgh (U.K.)
11,680 I
5,049 Arhus (Denmark)
Ontario (Canada)
2,081 I
11,347 Winnipeg (Canada)
9,048 Boston (U.S.A.)
New Haven (U.S.A.) 4,353 Total
43,558 2

*
t

- - - 0.05 - 1 0'01
- - - - -

0'01

0'01

0.02

0.04 zt 0.04

0.05

0.00

0.01

0'00

0'00

2*

0'02

0'01

0.04

1s
-

0'02

0'01

0.01

0.02

0'01

- - - -

46,XX/47,XX, +r. 46,XY/46,XY,16q+.


46,XY/46,XY,5p-.

Total
A
No. yo
5
5

0.04

0'10

3
6

0.03
0.07

21

0.05

0.10

- -

$ 46,XY/q,XY, +mar.

Appendix Table 13. Percentage chromosome abnormalities - combined series


of consecutive liveborn babies

Type

...

yo ...

Autosome structural
abnormalities

Sex
chromosome
abnormalities

Autosome
trisomics

0'20

0'12

, pA - (

Euploid

Aneuploid

Total

0.19

0.05

0.56

Appendix Table 14. Babies with structural chromosome abnormality w h r e


chromosomes of both parents examined
Robertsonian
translocations
Class of
abnormality
Euploid

Aneuploid

Parental
chromosomes

--*-,

Reciprocal
transSuperlocations Inversions Deletions numerary

D/D

D/G

Father affected
Mother affected
Mutant

10

7
8

Total
Father affected
Mother affected
Mutant
Total

16

24

Total

23

I7
10

50