Partial duplication 2p as the sole abnormality in two cases with anencephaly | Zendy

Thangavelu Maya | Zendy; Frolich Gary | Zendy; Rogers David | Zendy

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Partial duplication 2p as the sole abnormality in two cases with anencephaly

Author(s) -

Thangavelu Maya,

Frolich Gary,

Rogers David

Publication year - 2003

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.20322

Subject(s) - anencephaly , gene duplication , abnormality , aneuploidy , genetics , biology , chromosome , gene , fetus , pregnancy , medicine , psychiatry

Anencephaly/NTD has been observed in aneuploid and non‐aneuploid individuals. We present two cases of anencephaly diagnosed prenatally with partial duplication of the short arm of chromosome 2 as the sole abnormality. The absence of aneuploidy involving other regions of the genome in these cases, further substantiates suggestions of the existence of a gene or genes on the short arm of chromosome 2 critical in the development of the central nervous system. © 2003 Wiley‐Liss, Inc.

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