Cytogenetics Report for G-Banded Karyotype

Laila and Nyssa

Select a chromosome from the cryostorage area. Insert a picture of the chromosome, labeling
the p arm, q arm, centromere, and telomere.

Chromosome Type: ​✓​ metacentric _____ submetacentric _____ acrocentric

Patient Name Case Study ID Age

Marie B 37

Why is the patient being referred for karyotyping? Source of Cells for Karyotyping
Marie is pregnant and her screening tests showed
several abnormalities in the fetus that require further ____ Blood
investigation. ✓​ Amniocytes
____ Chorionic Villi
✓​ Other (specify) ​Fetal skin cells
Total Number of Chromosomes Observed Gender
46 Female

Chromosomal Findings Patient Diagnosis

_____ no observable chromosomal abnormalities Down syndrome
✓​ monosomy (chromosome # 21)
_____ trisomy (chromosome # _____)
_____ deletion (chromosome # _____, arm _____)
_____ insertion (chromosome # _____, arm _____)
_____ translocation (chromosome #s _____, and _____)
_____ inversion (chromosome # _____, arm(s) _____)

Briefly explain how a karyotype is prepared.

A karyotype is prepared by first gathering a cell sample from a particular source. Typically these sources
include blood, skin tissue, chorionic villi, and/or amniotic villi. Once the sample is gathered the cells are
placed in a live culture where the cell undergoes growth and division. During metaphase, the cells are
extracted and swelled to view under a microscope. When the cells burst, the chromosomes are spread
out, stained with a giemsa dye, and observed under said microscope.

Why do you think that relatively few fetuses with chromosomal trisomies survive to birth?
The mutation affects their development meaning that the body can only deal with so much in order to
develop a fetus. For example, like a computer program, cells are used to handling a certain amount of
commands, but when there are too many the cell has an overload of information which leads to the cell
malfunctioning. This results in the cell ceasing development.

Why are microdeletions and microinsertions difficult to diagnose using karyotyping?

Microdeletions and microinsertions are difficult to diagnose using karyotyping because there are
technology limitations with the distance at which microscopes can view chromosomes. As a result, it is
difficult to accurately pinpoint where a microdeletion or micro insertion occurred.

Add notes for the patient’s caregiver with additional implications of the diagnosis, including life
expectancy, complications, available treatments, and support group information.
Life expectancy:​ 60 years
Complications:
● Birth defects in the heart or intestines
● Higher risk of developing medical conditions such as gastric reflux, celiac disease,
hyperthyroidism, and leukemia in some cases
● Delayed development/behavioral issues
● Gradual decline in thinking ability (cognition) which can increase their risk of Alzheimer disease
Treatment:
● Speech therapy
● Occupational therapy
 ● Physical therapy
● Glasses
● Special Education
● Physical Exercise
Support Groups:
● Chromosome Disorder Outreach
● LuMind REsearch Down Syndrome Foundation
● National Down Syndrome Society

Karyotype: