Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.
Ann Genet
; 47(4): 393-8, 2004.
Article
em En
| MEDLINE
| ID: mdl-15581838
ABSTRACT
This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation of chromosomes 15 and 18 displaying the features of pure trisomy. This is the first reported case with partial trisomy 18q due to unbalanced translocation between chromosomes 15 and 18. Clinical findings of our case have been compared with the reported cases' had partial trisomy 18q and the importance to recognize the cases with chromosome abnormalities to give genetic counseling and prenatal diagnosis for subsequent pregnancies has emphasized.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
/
Trissomia
/
Cromossomos Humanos Par 15
/
Cromossomos Humanos Par 18
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Ann Genet
Ano de publicação:
2004
Tipo de documento:
Article