Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation.
Am J Med Genet
; 93(2): 107-9, 2000 Jul 17.
Article
em En
| MEDLINE
| ID: mdl-10869111
ABSTRACT
Constitutional interstitial deletions of 5q are uncommon. The corresponding phenotype is not well defined. But severe mental retardation seems to be a consistent manifestation. We describe a 4-year-old girl with a de novo deletion of 5q33.3q35.1 presenting only with mild psychomotor delay, minor facial anomalies, and seizures.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 5
/
Deleção Cromossômica
/
Deficiência Intelectual
Limite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Alemanha