Campbell Problem 10

Molecular Genetics Problem 10

10. An aneuploid person is obviously female, but her cells have two Barr bodies. What is the probable complement of sex chromosomes in this individual?

This individual probably is XXX.

The individual is a female. Nondisjunction of sex chromosomes produces a variety of aneuploid conditions in humans. Most of these conditions appear to upset genetic balance less than aneuploid conditions involving autosomes. Extra copies of the X chromosome are deactivated as Barr bodies in the somatic cells. Females with trisomy of the X chromosome (XXX), which occurs about once in approximately 1000 live births, are healthy and cannot be distinguished from XX females except by karyotype.

An Example of nondisjunction:

Klinefelter’s syndrome

49 ,XXXXY

This karyotype shows a variant of Klinefelter’s syndrome.

Individuals with this syndrome are male, typically with the karyotype 47,XXY.

Individuals with Klinefelter’s syndrome exhibit a characteristic phenotype including tall stature, infertility, gynecomastia and hypogonadism.

Aneuploidy above one extra chromosome is usually fatal but because of X-inactivation, which “turns off” all but one X chromosome per cell, the effects of 3 extra chromosomes are reduced.

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