PMID- 14700141
OWN - NLM
STAT- MEDLINE
DCOM- 20040205
LR  - 20041117
IS  - 0125-2208 (Print)
IS  - 0125-2208 (Linking)
VI  - 86 Suppl 3
DP  - 2003 Aug
TI  - Molecular diagnosis of Prader-Willi syndrome.
PG  - S510-6
AB  - BACKGROUND: Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia 
      and feeding problems in infancy, developmental delay, hyperphagia with obesity, 
      short stature, hypogonadism, characteristic facial appearance, and behavior 
      problems. The diagnosis of PWS is based on clinical findings that change with 
      age. PWS has proved to be a difficult condition to recognize with the diagnosis 
      often being delayed until later childhood or even adulthood. Therefore, a 
      molecular testing for PWS is needed to confirm the diagnosis. OBJECTIVE: To study 
      the clinical features of Prader-Willi syndrome patients and confirm diagnosis by 
      molecular testing. MATERIAL AND METHOD: Eighteen Prader-Willi syndrome patients 
      who were diagnosed between March, 1997 and February, 2002 at the Genetic Unit, 
      Queen Sirikit National Institute of Child Health, Bangkok. Peripheral blood 
      lymphocytes were obtained and cultured using the standard technique for 
      chromosome analysis. For fluorescence in situ hybridization (FISH) studies, the 
      specific DNA probes for loci small nuclear ribonucleoprotein polypeptide N 
      (SNRPN) were used to detect deletion. Non-deleted cases were confirmed to have 
      PWS by methylation analysis. RESULTS: The diagnosis of eighteen PWS patients was 
      confirmed by FISH using DNA probes for loci SNRPN demonstrating a deletion of 
      chromosome 15q11-q13 in fourteen cases (77%). Four cases (23%) were confirmed to 
      have PWS resulting from maternal uniparental disomy by demonstrating exclusively 
      maternal specific DNA methylation patterns. CONCLUSION: The clinical diagnosis of 
      PWS should be confirmed by molecular testing especially in the infancy period to 
      avoid needless invasive diagnostic testing.
FAU - Pangkanon, Suthipong
AU  - Pangkanon S
AD  - Genetic Unit, Queen Sirikit National Institute of Child Health, Bangkok 10400, 
      Thailand.
LA  - eng
PT  - Journal Article
PL  - Thailand
TA  - J Med Assoc Thai
JT  - Journal of the Medical Association of Thailand = Chotmaihet thangphaet
JID - 7507216
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - Prader-Willi Syndrome/*diagnosis/*genetics
MH  - Sequence Deletion/genetics
EDAT- 2004/01/01 05:00
MHDA- 2004/02/06 05:00
CRDT- 2004/01/01 05:00
PHST- 2004/01/01 05:00 [pubmed]
PHST- 2004/02/06 05:00 [medline]
PHST- 2004/01/01 05:00 [entrez]
PST - ppublish
SO  - J Med Assoc Thai. 2003 Aug;86 Suppl 3:S510-6.