Gardner-Silengo-Wachtel or genito-palato-cadiac syndrome with associated autosomal aneuploidy.
Am J Med Genet A
; 149A(4): 693-7, 2009 Feb 15.
Article
em En
| MEDLINE
| ID: mdl-19283856
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Fissura Palatina
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Disgenesia Gonadal 46 XY
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Cardiopatias Congênitas
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Aneuploidia
Tipo de estudo:
Risk_factors_studies
Limite:
Female
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Humans
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Male
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Newborn
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Pregnancy
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article