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Exam questionKROK 1Medicine · 2014

A female patient saught medical-genetic consultation. Physical examination revealed pterygium colli deformity (webbed neck), broad chest, underdeveloped breasts. Study of buccal epithelium cells revealed no X-chromatin in the nuclei. This indicates that the patient has the following syndrome:

Answer options

  1. Turner’s
  2. Patau’s
  3. Down’s
  4. Edwards’
  5. Klinefelter’s
Correct answer

Turner’s

Explanation

Turner syndrome ( 45 X0 no Barr body) is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is an early loss of ovarian function (ovarian hypofunction or premature ovarian failure) such as a broad chest, underdeveloped breasts.

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