A case of Prader-Willi syndrome with bilateral cryptorchidism and diabets mellitus / 대한내과학회지
Korean Journal of Medicine
; : 426-430, 2002.
Article
in Ko
| WPRIM
| ID: wpr-11151
Responsible library:
WPRO
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.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Prader-Willi Syndrome
/
Chromosomes, Human, Pair 15
/
DNA Probes
/
In Situ Hybridization
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Glucose Intolerance
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Cryptorchidism
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Fluorescence
/
Foot
/
Hand
/
Hypogonadism
Limits:
Adolescent
/
Humans
/
Male
Language:
Ko
Journal:
Korean Journal of Medicine
Year:
2002
Document type:
Article