Question

Klinefelter’s syndrome has the following phenotypes and karyotype.
(a) Male and 47, XXY
(b) Female and 47,XXX
(c) Male and 47, XYY
(d) Female and 46, X

Answer 1

Hint: Chromosomal sex aberration take place either in the meiosis phase or at the early stage of post-zygotic development. It leads to chromosome disorder by loss or gain of one or more sex chromosomes which is also known as chromosome aneuploidies.

Complete answer:
Klinefelter syndrome was introduced by Klinefelter in 1942, this syndrome occurs in males, with 44+ XXY chromosomes. This syndrome occurs due to the fusion of egg having unreduced sex complement with normal sperm. The total number of chromosomes present is either 47 or 48. Klinefelter syndrome shows the defect like long legs, sparse body hair, small prostate gland, small testes, reduced mental intelligence, and enlarged breast. Leg ulcers, osteoporosis, and breast carcinoma common in these individuals.

Additional Information: Turner syndrome is also an example of chromosomal sex aberration. This syndrome was introduced by turner in 1938, where fusion takes place between one gamete without sex chromosome and another gamete with sex gamete. This syndrome occurs in females. The total number of chromosomes present is 45. This syndrome leads to the development of a webbed neck, low posterior hairline, undeveloped breast, small uterus, absence of a menstrual cycle, reduced ovary, broad chest, abnormal jaw formation, and subnormal intelligence.
Super males with 44+ XYY, produce more testosterone as compared to normal male.
Super female with 44+XXX has an extra two chromosomes, nuclei possess two or more Barr bodies which leads to mental development. Sex character and fertility do not get affected. Nooman’s syndrome with 44+YO is also an example of chromosomal sex abbreviation.
So, the correct answer is Male and 47, XXY.

Note: The genetic disorder also includes sickle cell anemia, phenylketonuria, cystic fibrosis, and color blindness, and hemophilia A and B which are due to defects in the autosomal chromosome.