A Case of 13q- Syndrome with Arthrogryposis Multiflex Congenita
Journal of the Korean Society of Neonatology
;
: 103-107, 2003.
Artigo
em Coreano
| WPRIM
| ID: wpr-27186
ABSTRACT
13q- syndrome is a rare genetic disorder characterized by psychomotor retardation, hypotonia, microcephaly, retinoblastoma, ptosis and coloboma. Facial and congenital heart anomalies are also found and about 60% of males have genital and anorectal malformations. We report a case of 13q- syndrome male infant with many of afore mentioned features including imperforate anus, penoscrotal inversion, dolichocephaly, large low set ears, micrognathia, bifid scrotum with arthrogryposis, diagnosed by chromosomal analysis using synchronized high resolution G-banding technique which revealed of 46, XY, del(13) (q22) in all 20 metaphases. Echocardiogram and kidney sonogram were normal.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Anus Imperfurado
/
Artrogripose
/
Retinoblastoma
/
Escroto
/
Cromossomos Humanos Par 13
/
Coloboma
/
Orelha
/
Coração
/
Rim
/
Metáfase
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Society of Neonatology
Ano de publicação:
2003
Tipo de documento:
Artigo
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