What is the diagnosis of a 13-year-old female who has a karyotype that reveals an absent homol-ogous X chromosome with only a single X chromosome present?
Her features include a short stature, widely spaced nipples, and a reduced carrying angle at the elbow.
a. Down syndrome
b. Cri du chat syndrome
c. Turner syndrome
d. Klinefelter syndrome
ANS: C
Turner syndrome is characterized by short stature, female genitalia, webbed neck, shield-like chest with underdeveloped breasts and widely spaced nipples, and imperfectly developed ova-ries. Down syndrome is characterized by distinctive characteristics: low nasal bridge, epicanthal folds, protruding tongue, and low-set ears. Cri du chat syndrome is characterized by low birth weight, severe mental retardation, microcephaly (smaller than normal head size), and heart de-fects. Klinefelter syndrome is characterized by small testes, some development of the breasts, sparse body hair, and long limbs.
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