PMID- 8772055
OWN - NLM
STAT- MEDLINE
DCOM- 19961017
LR  - 20161013
IS  - 0929-6646 (Print)
IS  - 0929-6646 (Linking)
VI  - 95
IP  - 6
DP  - 1996 Jun
TI  - Prader-Willi syndrome: clinical and molecular cytogenetic investigations.
PG  - 474-9
AB  - Prader-Willi syndrome is characterized by hypotonia and feeding difficulties in 
      the neonatal period, with the childhood development of hyperphagia leading to 
      obesity, developmental delay, hypogonadism, short stature and small hands and 
      feet. Correct diagnosis of Prader-Willi syndrome is important because of its 
      clinical implications and the need for family genetic counseling. In order to 
      determine the most efficient method of diagnosing the condition, we evaluated 37 
      patients with a putative diagnosis of Prader-Willi syndrome by both clinical and 
      molecular cytogenetic analyses. Clinical evaluation showed that 25 patients 
      fulfilled the diagnostic criteria for Prader-Willi syndrome. A deletion of the 
      region 15q11.2-13 was cytogenetically identified in 20 patients using a 
      high-resolution technique. Four additional cases were detected by fluorescence in 
      situ hybridization (FISH) with the cosmid probes for D15S11, r-aminobutyric acid 
      receptor beta 3 (GABRB3), small nuclear ribonucleoprotein-associated peptide N 
      (SNRPN) or D15S10 (Prader-Willi/ Angelman syndrome region probes). The deletion 
      of SNRPN was documented in 24 Prader-Willi syndrome patients. Only one additional 
      patient with typical Prader-Willi syndrome features did not have any deletion 
      over 15q11-13 at either the cytogenetic or molecular level. FISH provides a more 
      reliable method than high-resolution chromosome analysis for the diagnosis of 
      Prader-Willi syndrome. Associated conditions such as hypopigmentation, 
      small-joint laxity, arachnodactyly, seizure disorder, optic atrophy, congenital 
      heart disease, Perthes' disease, hirsutism, astigmatism/amblyopia, microcephaly 
      and neuropsychiatric disturbances dictate the effects of a contiguous gene 
      syndrome. Morbidity is high among patients with obesity and associated 
      conditions. Appropriate genetic counseling should be given to the parents and 
      dietary management should be helpful for patients with Prader-Willi syndrome.
FAU - Hou, J W
AU  - Hou JW
AD  - Department of Pediatrics, National Taiwan University Hospital, Taipei, ROC.
FAU - Wang, T R
AU  - Wang TR
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Singapore
TA  - J Formos Med Assoc
JT  - Journal of the Formosan Medical Association = Taiwan yi zhi
JID - 9214933
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 15
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Prader-Willi Syndrome/*genetics
EDAT- 1996/06/01 00:00
MHDA- 1996/06/01 00:01
CRDT- 1996/06/01 00:00
PHST- 1996/06/01 00:00 [pubmed]
PHST- 1996/06/01 00:01 [medline]
PHST- 1996/06/01 00:00 [entrez]
PST - ppublish
SO  - J Formos Med Assoc. 1996 Jun;95(6):474-9.