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Gardner‐Silengo‐Wachtel or genito‐palato‐cadiac syndrome with associated autosomal aneuploidy
Author(s) -
Golabi Mahin,
James Aaron W.,
Desai Nina,
Culver Katherine,
Cotter Philip D.
Publication year - 2009
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.32755
Subject(s) - monosomy , aneuploidy , phenocopy , turner syndrome , biology , polysomy , genetics , medicine , chromosome , karyotype , gene , fluorescence in situ hybridization , mutant
Abstract Gardner‐Silengo‐Wachtel or genito‐palato‐cardiac syndrome is a disorder of male (46,XY) gonadal dysgenesis, thought to be either an X‐linked recessive or an autosomal recessive disorder. The propositus in our report presented with multiple congenital anomalies including micrognathia, cleft palate, congenital heart defect with D‐transposition, double outlet right ventricle, PFO, VSD, PDA and pulmonary valve stenosis and gonadal dysgenesis. Chromosome analysis showed a 46, XY, t(1;7)(q32,q22.1) der(10) t(3;10) (q21;q26)pat karyotype. This represents a rare case of autosomal aneuploidy associated with Gardner‐Silengo‐Wachtel or genito‐palato‐cardiac syndrome and suggests genetic heterogeneity for this syndrome. Partial monosomy of 10q also shares many of the prominent features of genito‐palato‐cardiac syndrome, including gonadal dysgenesis, cardiac defects and facial features. Monosomy for distal 10q may present as a phenocopy of Gardner‐Silengo‐Wachtel or genito‐palato‐cardiac syndrome. Alternatively, unmasking of a recessive allele on distal 10q may result in genito‐palato‐cardiac syndrome, thus potentially localizing a candidate region for the gene to 10q26 → qter. © 2009 Wiley‐Liss, Inc.