A case of Prader-Willi syndrome with bilateral cryptorchidism and diabets mellitus / 대한내과학회지
Korean Journal of Medicine
;
: 426-430, 2002.
Artigo
em Coreano
| WPRIM
| ID: wpr-11151
ABSTRACT
Prader-Willi syndrome (PWS) is a complex, multisystem disorder comprising congenital hypotonia, feeding difficulties, hypogonadism and hypogenitalism, short stature, small hands and feet, mental and psychomotor retardation, distinctive facial appearance, onset of obesity in early childhood and a tendency to develop glucose intolerance in adolescence. Yet the syndrome remains difficult to diagnose due to the subtle nature of many of the manifestations. We report an 19-year old man with PWS, confirmed by fluorescence in situ hybridization (FISH) with DNA probes specific for the PWS region on chromosome 15.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome de Prader-Willi
/
Cromossomos Humanos Par 15
/
Sondas de DNA
/
Hibridização In Situ
/
Intolerância à Glucose
/
Criptorquidismo
/
Fluorescência
/
Pé
/
Mãos
/
Hipogonadismo
Limite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Korean Journal of Medicine
Ano de publicação:
2002
Tipo de documento:
Artigo
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