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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.