You are a world-famous human cytogeneticist, who specializes in patients with ob
ID: 276208 • Letter: Y
Question
You are a world-famous human cytogeneticist, who specializes in patients with obscure chromosomal abnormalities. Answer the following questions based on the included pictures of partial karyotypes. The chromosome number is indicated next to each chromosome. Q 1 (10 points): Patient # 1 has the following abnormality: THHAIHLX(normal) THHENIIIDx A) Name and briefly describe this abnormality. B) Describe what happens to the X chromosome in female mammals C) Located within the region affected by this abnormality is a gene that is required for hair follicle development. Null alleles of this gene result in a lack of hair. Describe the phenotype you would expect this patient to have.Explanation / Answer
Turners syndrome. In this syndrome one of the X chromosome is partially or completely lost which results in many abnormal phenotypes in women like short stature, webbed neck, infertility etc.
Females have 2 X chromosomes. In somatic cells, one of the X chromosome is randomly inactivated resulting in dosage compensation.
C) the phenotype would depend on 1) which X chromosome is inactivated -abnormal or normal? 2) what is the gene present on the activated X chromosome. If the abnormal X chromosome is inactivated and the other X chromosome has a normal allele then the individual shall have normal phenotype. If the normal X chromosome is inactivated, the gene is missing from the other abnormal X chromosome and the individual will.lack hair.
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