Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability.
Genet Couns
; 22(4): 425-30, 2011.
Article
em En
| MEDLINE
| ID: mdl-22303804
ABSTRACT
We report the cytogenetic and molecular characterization of a 22.3-Mb pure interstitial duplication of chromosome 7q, dup(7)(q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay, inguinal hernia, strabismus and intellectual disability. We speculate that the gene dosage increase effect of the ING3 and LEP genes may be partially responsible for the phenotype of growth restriction and short stature in this patient.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 7
/
Deficiências do Desenvolvimento
/
Duplicação Cromossômica
/
Transtornos do Crescimento
/
Transtornos do Desenvolvimento da Linguagem
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Genet Couns
Assunto da revista:
ETICA
/
GENETICA MEDICA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Taiwan