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Sex chromosome abnormalities are due to numeric abnormalities or structural defects. Based on what you learned on the genetic mechanisms for Mammalian sex determination what do you think will be the outcome of the following abnormalities (refer to gender, secondary sex characteristics, fertility, etc) and Why? ***I am not going to tell you WHICH human sex chromosomal abnormalities I might give you because I don't want you to look up the syndrome and MEMORIZE Rather, make sure you understand the chromosomal determination pathways for male and females so that you can reason out your answer.

Explanation / Answer

Turner syndrome

This disorder also referred to as monosomy X (45X) occurs in individuals that have one X chromosome, no Y chromosome, and are phenotypically female. Although 45X is a frequent chromosomal anomaly, Turner syndrome is rare with a live-birth frequency of 1:3000, as only 1 in 40 affected zygotes develops to term. Affected individuals experience abnormal growth patterns, are short in stature, generally, lack prominent female secondary sexual characteristics and are sterile. In some instances of Turner syndrome, there is slight mental retardation.

Patients present with the following features:

XXX Females

Women with three X chromosomes (47XXX) experience the normal development of sexual traits and are fertile. Affected individuals are usually taller than average and have slender builds. The frequency of women obtaining an extra X chromosome is approximately 1:1000. There is no severe phenotype associated with three X chromosomes in women. These women may have slight learning difficulties.

Klinefelter Syndrome

Klinefelter syndrome (47XXY or XY/XXY mosaic) with male phenotype is the most pervasive sex chromosomal anomaly affecting approximately 1:600 males. Males with Klinefelter syndrome carry two or more X chromosomes which result in abnormal development of the testis, leading to hypogonadism and infertility. Affected individuals are often tall and produce relatively small amounts of testosterone. As a result of this hormone imbalance, affected males have incompletely developed secondary male sex characteristics.

XYY Males

Men inheriting an additional Y chromosome are usually taller than average and are prone to acne because they produce higher than average levels of testosterone. Affected males are typically fertile and many are unaware that they have a chromosomal abnormality. The frequency of males born with an additional Y chromosome is approximately 1:1000.

Patients are usually phenotypically normal and may have the following features:

Hermaphroditism

‘True’ hermaphroditism is a genetic condition in which affected individuals have both mature ovarian and testicular tissue. There are no published population-wide estimates of the frequency of true hermaphrodites. The autosomal inheritance of this condition suggests that genes controlling sexual development and differentiation are not limited to the sex chromosomes.Blackless et al. suggest that such familial inheritance “opens the possibility that, as with other inherited forms of sexual ambiguity, there may be pockets, perhaps even large geographical regions, with relatively high frequencies of true hermaphroditism.”

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