Biochemistry Publications

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

Document Type

Article

Publication Date

8-1-1999

Journal

Journal of Medical Genetics

Volume

36

Issue

8

First Page

633

Last Page

636

Abstract

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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