A de novo translocation of chromosomes 1 and 2 in an 18 year old boy with syndromic mental retardation.
Genet Couns
; 23(4): 473-6, 2012.
Article
em En
| MEDLINE
| ID: mdl-23431746
ABSTRACT
Chromosome analysis of cultured lymphocytes from an 18 year old mentally retarded boy with minor dysmorphic features revealed a de novo inverted insertion translocation involving chromosomes 1 and 2. The chromosome complement was interpreted as 46,XY, inv ins(1;2)(q44;p12pter). Parents were phenotypically normal with no chromosomal anomalies.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
/
Cromossomos Humanos Par 1
/
Cromossomos Humanos Par 2
/
Transtornos Cromossômicos
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Genet Couns
Assunto da revista:
ETICA
/
GENETICA MEDICA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Índia