Download Karyotype Analysis File

Karyotype Analysis
Disorder Name
Diploid
Chromosome
Make-Up
None/Healthy Female
46, XX
N/A
None/Healthy Male
46, XY
N/A
Patau Syndrome
47, Trisomy-13
Edwards Syndrome
47, Trisomy-18
Down Syndrome
47, Trisomy-21
Klinefelters Syndrome
47, XXY
Turners Syndrome
45, X
Jacob’s Syndrome
47, XYY
Cri-du-chat Syndrome
46, there is a partial
deletion of an upper
short arm on
chromosome 5
46, there is a partial
deletion on an upper
short arm on
chromosome 18
18q Syndrome
Symptoms
Fatal by one year (most die within days of birth). Severe
Mental and Physical Disabilities. Includes: very small, poorly
developed eyes, cleft lip and palate, extra fingers or toes,
weak muscle tone.
Slow growth while in the womb, suffers from low birth
weight. Heart defects. Deformed skull, small jaw and mouth.
Severe mental disabilities. Most infants die within the first
month, only around 5% survive to their first birthday.
Mild to severe mental disabilities. Increased risk of
Alzheimers, heart defects, and digestive abnormalities.
Physical characteristics include: flattened facial profile,
upward slant of eyes, shortened neck, typically smaller in
stature, poor muscle tone.
Male with an extra X chromosome. Sterile because of
underdeveloped testes due to lower testosterone. Reduced
facial and body hair. Tend to be taller than peers. Tend to
have learning disabilities, including delayed speech.
Female with only one X chromosome. No mental disabilities.
Most infertile due to early ovarian failure. Shorter in stature,
webbed neck, swelling of hands and feet at infancy. 1/3 born
with heart defect.
Male with an extra Y chromosome. Taller than average. No
unusual physical features. Are fertile, normal sexual
development. Delayed development of motor skills (like
walking). Weak muscle tone, hand tremors. Can experience
behavioral and emotional issues.
Feeble. High pitched cat-like cries, delayed development,
mental disabilities. Distinct facial features include wide-set
eyes, low-set ears, and small jaw
Mild to severe range of mental disabilities, seizures, short
stature, narrow ear canals leading to hearing loss, limb and
foot deformities, deep set eyes, skin problems
Patient C
Patient D
Name________________________
Questions
1. What is karyotyping used for?
2. What is the gender patient of C and how do you know?
3. Does Patient C have one of the disorders listed in the table? If so, list the disorder and how you knew.
4. Does Patient D have one of the disorders listed in the table? If so, list the disorder and how you knew.
5. What is the gender of patient D and how do you know?
6. What is the diploid number for a healthy human being?
7. Are the cells being examined for these karyotypes diploid or haploid? How do you know?
8. T/F The chromosomes shown below are homologous chromosomes. Explain your answer.
9. What occurs during meiosis that causes abnormal numbers of chromosomes?