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Chromosomes
10 9 8 7 6 5 4 3 2 1
Keywords
Chromosome, triplody, DNA, Down syndrome, karyotype, meiosis,
monosomy, morphology, mutation, nucleus, reduction division, SEM,
stereo microscope, trisomy, ultrasound, XX, XY
Contents
Chapter 1 Introduction��������������������������������������������������������������������1
Chapter 2 Chromosome Morphology����������������������������������������������5
Chapter 3 The Importance of Numbers�������������������������������������������7
Chapter 4 Chromosomal Aberrations��������������������������������������������11
Chapter 5 How Does a Fetus End Up With the Wrong
Number of Chromosomes?�������������������������������������������13
Chapter 6 The Best-Known Example���������������������������������������������21
Chapter 7 Diagnosis and Treatment�����������������������������������������������25
Chapter 8 Legal and Ethical Issues�������������������������������������������������27
Chapter 9 The Perfect Case?�����������������������������������������������������������29
Chapter 10 Human Chromosome MAP������������������������������������������33
Appendix A������������������������������������������������������������������������������������������41
References���������������������������������������������������������������������������������������������43
About the Authors���������������������������������������������������������������������������������45
Index���������������������������������������������������������������������������������������������������47
CHAPTER 1
Introduction
All living things have cells, nucleii, and chromosomes. As you can see,
in Table 1.1 the numbers of chromosomes vary a lot. As you look at the
chart, notice which creatures have more chromosomes than humans and
those with less than humans.1
It makes sense that the living things with the most chromosomes
would be the most evolved.
Oh, wait, you noticed that humans do not have the most chromo-
somes? Does this mean that we are not the most evolved?
Table 1.1
Number of chromosomes Species
6 Mosquito
14 Peas, Tasmanian devil,
aloe vera plant
20–22 Cannabis, opossum
24–26 Tomato, snail, edible frog (frog legs)
30–34 Pistachios, red fox, sunflower
36–38 Earthworm, tiger, raccoon, meerkat
40–42 Mouse, mango, peanut, rhesus monkey
46–48 Humans (us), tobacco, orangutan, chimp
56–60 Elephant, strawberry, buffalo
90–100 Great white shark (82)
Carp (100)
Shrimp (92)
Over 150 Fern (216)
Atlas blue butterfly (448)
King crab (208)
List_of_organisms_by_chromosome_count
2 Chromosomes
1
2
5
3
4
When you look into a microscope at a cell, you probably will see
a large circle near the center of the cell. This is the nucleus that holds
the genetic material, the chromosomes. Chromosomes are made of long
strands of DNA (deoxyribonucleic acid), and therefore contain genes.
In this book, we will discuss the biology of cells and their most import-
ant organelle: the nucleus (See Figure 1.1). Within that organelle are the
chromosomes, long strands of protein that are made of DNA and control
our heredity. Within the nucleus, there are other important organelles,
but for today, the chromosomes stand alone.
The average human body contains about 37 trillion cells. Each is
surrounded by a membrane, and contains a semi-liquid called cytoplasm
and a nucleus. Within the nucleus are 46 chromosomes. A drawing of a
cell is presented in Figure 1.1 above.
Chromosomes carry many genes each creating proteins that work
within our body. Each cell in your body has the same number of
chromosomes as every other cell (the exception are red blood cells, which
are created in the bone marrow, and are replaced when they die).
This might seem odd because if the genes are the same in every cell,
they could not all be turned on everywhere, but genes are turned on only
when and where they are needed.
Example: the gene for pigment in the eye is active ONLY in the eye;
the gene for stomach acid is active in the stomach lining.
Questions (in italics, like the one above) are scattered throughout the
chapters to follow. Watch for them and think about how they may apply
to you and the major case, found below.
Major case: A couple, X and Y, are pregnant and the doctor takes a
detailed family history, and after an ultrasound, the doctor asks the couple
whether they would take additional tests.
Index
Abortion, 9 risk of, 18
Americans with Disabilities Act, 31 symptoms of, 21–22
Amniocentesis, 17 treatment, 26
ART. See Assisted reproductive with tracheoesophageal fistula,
techniques 29–32
Assisted reproductive techniques wrongful birth and wrongful life,
(ART), 25 28
Autosomes, 9 Down, John Langdon, 21