Aneuploidy of the X chromosome can result in a monosomy or polysomy disorder. The clinical manifestations of a female with monosomy X include: Select all that apply
A) A short-stature female individual
B) Difficulty with fine motor skills
C) Large heavy breasts
D) Early-onset (age 8) puberty
E) Nonpitting lymphedema of the feet
Ans: A, B, E
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Turner syndrome produces a female individual who is short, has no secondary sex characteristics, has normal intelligence, and fails to go through puberty due to an absence of ovaries. Polysomy X is a XXY male. XXY males have tall slim stature with breast enlargement, lack of sperm, and normal intelligence. They may have problems with visuospatial organization (driving a car, working math problems, psychomotor skills, etc.). There are variations in the syndrome, with abnormalities ranging from essentially none to webbing of the neck with redundant skin folds and nonpitting lymphedema of the hands and feet.
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