PMID- 25449072
OWN - NLM
STAT- MEDLINE
DCOM- 20150324
LR  - 20141202
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 31
IP  - 6
DP  - 2014 Dec
TI  - [Phenotype-genotype correlation analysis of 12 cases with Angelman/Prader-Willi 
      syndrome].
PG  - 708-12
LID - 10.3760/cma.j.issn.1003-9406.2014.06.006 [doi]
AB  - OBJECTIVE: To investigate the genotype-phenotype correlation in patients with 
      Angelman syndrome/Prader-Willi syndrome (AS/PWS) and assess the application value 
      of high-resolution single nucleotide polymorphism microarrays (SNP array) for 
      such diseases. METHODS: Twelve AS/PWS patients were diagnosed through SNP array, 
      fluorescence in situ hybridization (FISH) and karyotype analysis. Clinical 
      characteristics were analyzed. RESULTS: Deletions ranging from 4.8 Mb to 7.0 Mb 
      on chromosome 15q11.2-13 were detected in 11 patients. Uniparental disomy (UPD) 
      was detected in only 1 patient. Patients with deletions could be divided into 2 
      groups, including 7 cases with class I and 4 with class II. The two groups 
      however had no significant phenotypic difference. The UPD patient had relatively 
      better development and language ability. Deletions of 6 patients were confirmed 
      by FISH to be of de novo in origin. The risk to their sibs was determined to be 
      less than 1%. CONCLUSION: The phenotypic differences between AS/PWS patients with 
      class I and class II deletion need to be further studied. SNP array is useful in 
      detecting and distinguishing of patients with deletion or UPD. This method may be 
      applied for studying the genotype-phenotype association and the mechanism 
      underlying AS/PWS.
FAU - Chen, Chen
AU  - Chen C
AD  - State Key Laboratory of Medical Genetics, Central South University, Changsha, 
      Hunan 410078, P. R. China. wulingqian@sklmg.edu.cn.
FAU - Peng, Ying
AU  - Peng Y
FAU - Xia, Yan
AU  - Xia Y
FAU - Li, Haoxian
AU  - Li H
FAU - Zhu, Huimin
AU  - Zhu H
FAU - Pan, Qian
AU  - Pan Q
FAU - Yin, Fei
AU  - Yin F
FAU - Wu, Lingqian
AU  - Wu L
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Angelman Syndrome/diagnosis/*genetics
MH  - Child, Preschool
MH  - Chromosome Deletion
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide
MH  - Prader-Willi Syndrome/diagnosis/*genetics
EDAT- 2014/12/03 06:00
MHDA- 2015/03/25 06:00
CRDT- 2014/12/03 06:00
PHST- 2014/12/03 06:00 [entrez]
PHST- 2014/12/03 06:00 [pubmed]
PHST- 2015/03/25 06:00 [medline]
AID - 940631151 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2014.06.006 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):708-12. doi: 
      10.3760/cma.j.issn.1003-9406.2014.06.006.