A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.
Hum Genet
; 87(6): 748-50, 1991 Oct.
Article
em En
| MEDLINE
| ID: mdl-1937482
ABSTRACT
A mentally retarded boy with discrete physical findings, Hirschsprung disease (HD) and a microdeletion of 13q,del(13)(q32.3q33.2) is described. Band 13q33.1 was consistently missing in all cells. There have been, to date, 4 published cases of deletions involving the long arm of chromosome 13 associated with HD the interstitial deletion reported here is much smaller than, and it partially overlaps with, the previously reported deletions; it could be helpful for mapping one of the genes involved in this disease.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 13
/
Deleção Cromossômica
/
Doença de Hirschsprung
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
1991
Tipo de documento:
Article
País de afiliação:
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