Premium
Autosomal dominant flat umbilicus
Author(s) -
Leung Alexander K.C.,
McLeod D. Ross
Publication year - 2004
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.30395
Subject(s) - umbilicus (mollusc) , anatomy , proband , biology , tetralogy of fallot , genetics , medicine , mutation , gene , heart disease
Abstract We describe a Chinese family among whom five members in three generations had a flat umbilicus with vertical and male to male transmission indicative of autosomal dominant inheritance. Except the proband, who also had Tetralogy of Fallot, other affected members had a flat umbilicus as an isolated anomaly. Autosomal dominant transmission of isolated flat umbilicus has not been reported previously. © 2004 Wiley‐Liss, Inc.