Partial trisomy 9q due to maternal 9q 17q translocation.
Indian Pediatr
;
2008 Jul; 45(7): 595-8
Artigo
em Inglês
| IMSEAR
| ID: sea-12262
ABSTRACT
Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases have been reported in the literature till now. A large family with four affected children was studied in detail and was compared with the five previously reported cases. Determination of this novel balanced translocation in their family had helped us to offer prenatal diagnosis. This presentation is unique as even though partial trisomy 9q has been reported earlier with 9/17 translocations, our family is the first to have a translocation between q arms of chromosomes 9 and 17.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Linhagem
/
Fenótipo
/
Translocação Genética
/
Trissomia
/
Cromossomos Humanos Par 9
/
Cromossomos Humanos Par 17
/
Humanos
/
Masculino
/
Recém-Nascido
/
Cariotipagem
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2008
Tipo de documento:
Artigo
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