Biochemistry Publications

Title

Maternal uniparental disomy of chromosome 21 in a normal child

Document Type

Article

Publication Date

3-5-1999

Journal

American Journal of Medical Genetics

Volume

83

Issue

1

First Page

69

Last Page

71

URL with Digital Object Identifier

10.1002/(SICI)1096-8628(19990305)83:1<69::AID-AJMG14>3.0.CO;2-Q

Abstract

Maternal uniparental disomy of chromosome 21 [upd(21)mat] was found previously in a normal female and in 2 cases of early embryonic failure. We present a phenotypically normal child with upd(21)mat due to a de novo der(21;21)(q10;10). This finding suggests that chromosome 21 is not imprinted in the maternal germline.

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