Interstitial deletion of the short arm of chromosome 1: attempt to establish a clinical phenotype (46,XX,del (1)(p22p32)).
Am J Med Genet A
; 118A(2): 176-9, 2003 Apr 15.
Article
em En
| MEDLINE
| ID: mdl-12655498
ABSTRACT
A girl with a de novo interstitial deletion of the short arm of chromosome 1 (46,XX,del (1)(p22p32) is described with moderate developmental delay and minor phenotypic abnormality. These clinical manifestations are compared to previously reported patients with interstitial deletion of chromosome 1, in an attempt to identify a clinical phenotype which seems quite different from the syndrome linked to more terminal deletion of chromosome 1p, and perhaps from more proximal 1p deletion phenotype.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 1
/
Deleção Cromossômica
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2003
Tipo de documento:
Article