A case of Prader-Willi syndrome with bilateral cryptorchidism and diabets mellitus / 대한내과학회지
Korean Journal of Medicine
;
: 426-430, 2002.
Article
in Korean
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prader-Willi Syndrome
/
Chromosomes, Human, Pair 15
/
DNA Probes
/
In Situ Hybridization
/
Glucose Intolerance
/
Cryptorchidism
/
Fluorescence
/
Foot
/
Hand
/
Hypogonadism
Limits:
Adolescent
/
Humans
/
Male
Language:
Korean
Journal:
Korean Journal of Medicine
Year:
2002
Type:
Article
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