What is the diagnosis of a 13-year-old female who has a karyotype ...

[melina_rosy]

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

Question 2

A 12-year-old male is diagnosed with Klinefelter syndrome. His karyotype would reveal which of the following?
 
  a. XY
  b. XX
  c. XYY
  d. XXY

[carolinefletcherr]

Answer to Question 1

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.

Answer to Question 2

ANS: D
A person with Klinefelter syndrome has an XXY karyotype. An XY is a normal male. An XX is a normal female. An XYY is an aneuploid karyotype.