Question

what are klinefelter and turner syndromes examples of

Answer 1

Answer- These both syndromes are characterized by abnormal copy number of X- chomosome in humans.

Turner's syndrome- In this type of syndrome human possesses XO genotype (i.e., only one X chrmosome is present as sex chrmosome per cell) instead of normal XX or XY genotype. These organisms shows following phenotypes-

• The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before births.
• About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems.
• One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening.
• Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.

Klinefelter's syndrome- It a type of syndrome in which human possesses XXY genotype i.e., male having an extra copy of X chrmosome. These organisms shows following phenotype-

• Most commonly, affected individuals are taller than average and are generally infertile.
• However the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. In some cases, the features of the condition are so mild that the condition is not diagnosed until puberty or adulthood.
• Boys and men with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). The shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, and a reduced amount of facial and body hair.
• Some affected individuals also have differences in their genitalia, including undescended testes (cryptorchidism).
• Children with Klinefelter syndrome may have low muscle tone (hypotonia) and problems with coordination that may delay the development of motor skills, such as sitting, standing, and walking.
• Affected boys often have learning disabilities, resulting in mild delays in speech and language development and problems with reading.