Pure distal 9p deletion in a female infant with cerebral palsy.
Genet Couns
; 23(2): 215-21, 2012.
Article
em En
| MEDLINE
| ID: mdl-22876580
ABSTRACT
We report cytogenetic and molecular characterization of a 15.63-Mb pure distal deletion of chromosome 9p (9p22.3-->pter) in a l 1/2-year-old female infant with cerebral palsy and diffuse cerebral dysfunction. The deletion is of paternal origin and encompasses the genes of ANKRDS15, DOCK8, FOXD4 and VLDLR. We discuss the genotype-phenotype correlation in this case with neurological dysfunction and a distal 9p deletion of paternal origin.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Receptores de LDL
/
Paralisia Cerebral
/
Deleção Cromossômica
/
Fatores de Troca do Nucleotídeo Guanina
/
Proteínas Supressoras de Tumor
/
Fatores de Transcrição Forkhead
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Genet Couns
Assunto da revista:
ETICA
/
GENETICA MEDICA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Taiwan