Question

Karyotypes can be studied to determine an organism’s chromosomal makeup and to detect genetic defects. Turner syndrome occurs when a female has an incomplete set of sex chromosomes. Symptoms of Turner syndrome include swollen hands and feet, short stature, and infertility. Which type of chromosomal mutation is responsible for causing Turner syndrome?

Answer 1

The answer is deletion of X chromosome in females.

Turner syndrome is caused by completely or partly missing of X chromosome in females. it is known that females have two X chromosomes with karyotype 46,XX. Females with turner syndrome have karyotype 45,XX. This syndrome is characterized by infertility, short statue, swollen hands and feet, as well as heart defects, diabetes, webbed neck (extra skin on the neck), skeletal abnormalities.