Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.
Eur J Hum Genet
; 5(2): 105-9, 1997.
Article
em En
| MEDLINE
| ID: mdl-9195162
ABSTRACT
Balanced chromosomal abnormalities such as translocations and inversions have been identified in many genetic diseases. Cloning of the breakpoints involved in these abnormalities has led to the identification of the disease-related genes. Recent reports suggest the presence of a mental retardation locus at Xq11-12. We have identified a female patient with a balanced translocation t (X;12) (q11;q15) associated with mild mental retardation. We identified a yeast artificial chromosome spanning the X-chromosome breakpoint by using fluorescent in situ hybridization techniques. A cosmid library of this YAC has been constructed and the search for candidate genes is in progress.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
/
Cromossomo X
/
Cromossomos Humanos Par 12
/
Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Eur J Hum Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
1997
Tipo de documento:
Article