Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2).

نویسندگان

  • R A Martin
  • D W Sabol
  • P K Rogan
چکیده

Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interstitial segment of chromosome 14.

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منابع مشابه

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عنوان ژورنال:
  • Journal of medical genetics

دوره 36 8  شماره 

صفحات  -

تاریخ انتشار 1999