Duplication of distal 17q from a maternal translocation: an additional case with some unique features.
J Med Genet
; 26(9): 577-9, 1989 Sep.
Article
em En
| MEDLINE
| ID: mdl-2810342
ABSTRACT
A female with multiple dysmorphic features was found to have an unbalanced karyotype with duplication of the distal long arm of chromosome 17 and deletion of the terminal region of the short arm of chromosome 12. This was derived from a reciprocal translocation in the mother, 46,XX,t(12;17)(p13.3;q23). Clinical findings are presented and comparison with other reported cases of distal 17q duplication shows several unique features in our case.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 12
/
Cromossomos Humanos Par 17
/
Família Multigênica
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
1989
Tipo de documento:
Article