Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Nat Genet
; 39(9): 1071-3, 2007 Sep.
Article
en En
| MEDLINE
| ID: mdl-17704777
ABSTRACT
We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2-p12.2 constitute a previously undescribed syndrome.
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Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 16
/
Deleción Cromosómica
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
Idioma:
En
Año:
2007
Tipo del documento:
Article