A Case of Prader-Willi Syndrome with Microdeletion of Chromosome 15 q11-q13 Confirmed by FISH.
- Author:
Ji Heon JANG
;
Jee Yeon SONG
;
Byung Kyu SUH
;
Won Bae LEE
;
Byung Churl LEE
- Publication Type:Case Report
- Keywords:
Prader-Willi syndrome;
FISH
- MeSH:
Adolescent;
Chromosomes, Human, Pair 15*;
Diabetes Mellitus;
Diagnosis;
DNA;
Eating;
Fluorescence;
Humans;
Hypogonadism;
Intellectual Disability;
Male;
Muscle Hypotonia;
Obesity;
Prader-Willi Syndrome*;
Uniparental Disomy
- From:Journal of Korean Society of Pediatric Endocrinology
1997;2(1):145-152
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Prader-Willi(PW)syndrome is characterized by obesity, hypotonia, mental retardation, hypogonadism, short stature, excessive eating and characteristic facial appearance. Diabetes mellitus has been considered a component of PW syndrome. Recently this syndrome is caused by the absence of paternally derived genes normally located on chromosome segment 15 q11-q13 or may be the result of maternal uniparental disomy with the absence of paternally derived 15 q11-q13 region. The developement of probes containing segments of DNA from chromosome region 15 q11-q13 provides the oppotunity to confirm the diagnosis of PW syndrome by fluorescence in situ hybridization(FISH). We experienced a 15-year-old boy of PW syndrome with diabetes mellitus, who revealed mental retardation, hypogonadism, obesity and microdeletion of chromosome 15 q11-q13 comfirmed by FISH.
