Identification of critical regions for clinical features of distal 10q deletion syndrome.
Clin Genet
; 76(1): 54-62, 2009 Jul.
Article
em En
| MEDLINE
| ID: mdl-19558528
ABSTRACT
Array comparative genomic hybridization studies were performed to further characterize cytogenetic abnormalities found originally by karyotype and fluorescence in situ hybridization in five clinical cases of distal 10q deletions, including several with complex cytogenetic rearrangements and one with a partial male-to-female sex-reversal phenotype. These results have enabled us to narrow the previously proposed critical regions for the craniofacial, urogenital, and neuropsychiatric disease-related manifestations associated with distal 10q deletion syndrome. Furthermore, we propose that haploinsufficiency of the DOCK1 gene may play a crucial role in the pathogenesis of the 10q deletion syndrome. We hypothesize that alteration of DOCK1 and/or other genes involved in regulation and signaling of multiple pathways can explain the wide range of phenotypic variability between patients with similar or identical cytogenetic abnormalities.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 10
/
Deleção Cromossômica
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Estados Unidos
País de publicação:
DENMARK
/
DINAMARCA
/
DK