Partial monosomy 12p13.1----13.3.
J Med Genet
; 24(7): 434-6, 1987 Jul.
Article
em En
| MEDLINE
| ID: mdl-2441059
ABSTRACT
We describe a 27 month old female child with partial monosomy for the short arm of chromosome 12 46,XX,del(12)(p13.1----p13.3). She differs from the eight cases described by others, in that she is less severely affected. Her main clinical features are developmental delay, protruding tongue, strabismus, slightly unusual facies, slight micrognathia, and speech delay.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 12
/
Deficiências do Desenvolvimento
/
Deleção Cromossômica
Idioma:
En
Ano de publicação:
1987
Tipo de documento:
Article