title: Gardner-Silengo-Wachtel or genito-palato-cadiac syndrome with associated autosomal aneuploidy.
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.
authors.affiliation: California Pacific Medical Center, San Francisco, California, USA.
authors.forename: Mahin
authors.initials: M
authors.lastname: Golabi
authors.forename: Aaron W
authors.initials: AW
authors.lastname: James
authors.forename: Nina
authors.initials: N
authors.lastname: Desai
authors.forename: Katherine
authors.initials: K
authors.lastname: Culver
authors.forename: Philip D
authors.initials: PD
authors.lastname: Cotter
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D014178:Translocation, Genetic