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: Mahin Golabi, Aaron W James, Nina Desai, Katherine Culver, Philip D Cotter
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 149A Issue 4 Pg. 693-7 (Feb 15 2009) ISSN: 1552-4833 [Electronic] United States
• PMID: 19283856 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Aneuploidy
• Chromosome Deletion
• Chromosomes, Human, Pair 1 (genetics)
• Chromosomes, Human, Pair 10 (genetics)
• Chromosomes, Human, Pair 3 (genetics)
• Chromosomes, Human, Pair 7 (genetics)
• Cleft Palate (genetics)
• Female
• Gonadal Dysgenesis, 46,XY (genetics)
• Heart Defects, Congenital (genetics)
• Humans
• Infant, Newborn
• Karyotyping
• Male
• Phenotype
• Pregnancy
• Syndrome
• Translocation, Genetic