Maternal uniparental disomy of chromosome 21 in a normal child

Authors

Peter K. Rogan, Drexel University College of MedicineFollow
Darrin W. Sabol, Drexel University College of Medicine
Hope H. Punnett, Drexel University College of Medicine

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.