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Ebstein anomaly and duplication of the distal arm of chromosome 15: Report of two patients
Author(s) -
Miller Michelle S.,
Rao P. Nagesh,
Dudovitz Rebecca N.,
Falk Rena E.
Publication year - 2005
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.30921
Subject(s) - gene duplication , ebstein's anomaly , heart defect , tricuspid valve , medicine , anatomy , anomaly (physics) , cardiology , heart disease , biology , genetics , gene , physics , condensed matter physics
Abstract Ebstein anomaly of the tricuspid valve is an uncommon congenital heart defect. We report two unrelated patients with Ebstein anomaly and duplication of the distal long arm of chromosome 15 (15q22 → qter and 15q24 → qter). Duplication of 15q is a well‐described phenotype that includes congenital heart defects, and these are the first cases with Ebstein anomaly. Duplication of 15q likely affects the early morphogenesis of cardiac structures, including the normal formation of the tricuspid valve. © 2005 Wiley‐Liss, Inc.