Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.
Prenat Diagn
; 19(9): 884-6, 1999 Sep.
Article
em En
| MEDLINE
| ID: mdl-10521852
ABSTRACT
It has been postulated that the deletion of band 13q22 may be associated with digital malformations, especially thumb and big toe anomalies. We report a family where the mother is carrying a balanced translocation between chromosomes 5p15 and 13q22. The offspring have a specific and well-defined phenotype depending on which is the unbalanced chromosome in the karyotype. When a partial trisomy of 13q22-->qter is present, the fetuses have polydactyly in the four limbs, and when the fetus is carrying a partial monosomy of this portion, an oligodactyly in all members can be observed.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
/
Trissomia
/
Dedos do Pé
/
Segregação de Cromossomos
/
Monossomia
Limite:
Female
/
Humans
Idioma:
En
Revista:
Prenat Diagn
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Espanha