PMID- 19421899
OWN - NLM
STAT- MEDLINE
DCOM- 20091001
LR  - 20221207
IS  - 1355-008X (Print)
IS  - 1355-008X (Linking)
VI  - 36
IP  - 1
DP  - 2009 Aug
TI  - Clinical and genetic analysis for four Chinese families with Prader-Willi 
      syndrome.
PG  - 37-44
LID - 10.1007/s12020-009-9203-1 [doi]
AB  - Prader-Willi syndrome (PWS) is a complex, genetic, multisystem disorder. Its 
      major clinical features include neonatal hypotonia and failure to thrive, mental 
      retardation, hypogonadism, short hands and feet, hyperphagia-caused obesity, and 
      characteristic appearance. The genetic basis of PWS is also complex. It is caused 
      by the absence of expression of the active paternal genes such as the SNRPN, NDN, 
      and possibly others in the PWS critical region on 15q11-13. PWS is in effect a 
      contiguous gene syndrome resulting from deletion of the paternal copies of the 
      imprinted. Consensus in clinical diagnostic criteria was established in 1993. 
      However, identifying relevant patients for tests remains a challenge for most 
      practitioners, as many features of the disorder are nonspecific, and others can 
      be subtle or evolved over time. Consequently, molecular genetic tests can be used 
      to diagnose PWS accurately, allowing early diagnosis of the syndrome. High 
      resolution G-banding, high resolution cytogenetic methylation-specific PCR 
      (MS-PCR), and fluorescence in situ hybridization (FISH) are routinely used to 
      diagnose PWS. In this study, four Chinese patients, with typical PWS features, 
      were detected by MS-PCR and FISH. Three were cytogenetically normal, but lacked 
      paternal expression of proximal chromosome 15q because of maternal uniparental 
      disomy (UPD). The other one, however, demonstrated an unbalanced de novo 
      translocation 46, XX, t (7; 15).
FAU - Zhang, Yu-wen
AU  - Zhang YW
AD  - Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine 
      and Metabolic Diseases, Shanghai Jiaotong University School of Medicine, 
      Shanghai, 200025, People's Republic of China.
FAU - Jia, Hui-ying
AU  - Jia HY
FAU - Hong, Jie
AU  - Hong J
FAU - Ge, Yan
AU  - Ge Y
FAU - Zhang, Hui-jie
AU  - Zhang HJ
FAU - Shen, Chun-fang
AU  - Shen CF
FAU - Ye, Lei
AU  - Ye L
FAU - Cui, Bin
AU  - Cui B
FAU - Li, Xiao-ying
AU  - Li XY
FAU - Gu, Wei-qiong
AU  - Gu WQ
FAU - Zhang, Yi-fei
AU  - Zhang YF
FAU - Wang, Wei-qing
AU  - Wang WQ
FAU - Ning, Guang
AU  - Ning G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20090507
PL  - United States
TA  - Endocrine
JT  - Endocrine
JID - 9434444
SB  - IM
MH  - Adolescent
MH  - Asian People/*genetics
MH  - Child
MH  - *Chromosomes, Human, Pair 15
MH  - DNA Methylation
MH  - Family Health
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Obesity, Morbid/genetics/pathology
MH  - Polymerase Chain Reaction
MH  - Prader-Willi Syndrome/*genetics/pathology
MH  - *Translocation, Genetic
MH  - Young Adult
EDAT- 2009/05/08 09:00
MHDA- 2009/10/02 06:00
CRDT- 2009/05/08 09:00
PHST- 2009/02/17 00:00 [received]
PHST- 2009/04/09 00:00 [accepted]
PHST- 2009/03/23 00:00 [revised]
PHST- 2009/05/08 09:00 [entrez]
PHST- 2009/05/08 09:00 [pubmed]
PHST- 2009/10/02 06:00 [medline]
AID - 10.1007/s12020-009-9203-1 [doi]
PST - ppublish
SO  - Endocrine. 2009 Aug;36(1):37-44. doi: 10.1007/s12020-009-9203-1. Epub 2009 May 7.