Define aneuploidy and describe the sex chromosome aneuploidies involved in Turner syndrome, Klinefelter syndrome, and XYY syndrome; list characteristics of each disorder

Question

What will be an ideal response?

Answer 1

Changes in chromosome number that involve less than a whole chromosome set are called aneuploidy. In its simplest form, aneuploidy involves the gain or loss of a single chromosome. Loss of a single chromosome is known as monosomy, and the gain of a single chromosome is known as trisomy. Females with Turner syndrome have monosomy of the X chromosome and are typically short, wide-chested, with rudimentary ovaries and puffiness of the hands and feet. They may have an aortic constriction, but there is no intellectual disability associated with this condition. Most males with Klinefelter syndrome have an extra X chromosome (XXY). They have fertility problems but few other symptoms. Males carrying two Y chromosomes have XYY syndrome. Most are above average in height, have personality disorders, and are of subnormal intelligence.