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
- Turner’s
- Patau’s
- Down’s
- Edwards’
- 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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