PMID- 29419854
OWN - NLM
STAT- MEDLINE
DCOM- 20180605
LR  - 20180605
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 35
IP  - 1
DP  - 2018 Feb 10
TI  - [Analysis of 10 patients with duplications of 15q11q13 region and autism 
      features].
PG  - 23-28
LID - 10.3760/cma.j.issn.1003-9406.2018.01.005 [doi]
AB  - OBJECTIVE To analyze the clinical and genetic features of 10 unrelated patients 
      with duplications of 15q11q13 region and autism features.METHODS 
      Karyotyping,chromosomal microarray analysis (CMA) and fluorescence in situ 
      hybridization (FISH) were carried out for the patients and their parents.RESULTS 
      Eight patients presented with a supernumerary marker chromosome (SMC) of unknown 
      origin by G-banding analysis and triplication of the 15q11q13 region by 
      high-resolution CMA analysis. Two remaining patients had normal karyotypes but 
      duplications of the 15q11q13 region. All duplications have encompassed the Prader 
      Willi/Angelman syndrome critical region (PWACR). Similar gains in copy number 
      were not detected among the parents of the patients,suggesting a de novo origin 
      for them. Analysis of SNP-array data of the family trios using Chromosome 
      Analysis Suite Software found that the copy number gains have originated from the 
      mothers.The diagnosis of 15q11q13 duplication syndrome was ascertained. For 
      patients with SMC detected by karyotyping analysis,a FISH assay using probes 
      specific for the 15q11q13 region showed that such SMC also derived from 
      chromosome 15q11q13 region and contained two copy numbers, which was consistent 
      with the result of CMA.CONCLUSION Ten patients with autism and 15q11q13 
      duplications were identified with combined karyotyping, CMA and FISH analysis. A 
      phenotype - genotype correlation was established.
FAU - Wang, Weipeng
AU  - Wang W
AD  - Hubei Provincial Maternal and Child Health Care Hospital, Wuhan, Hubei 430070, 
      China; Guangzhou KingMed Center for Clinical Laboratory Co., Ltd., Guangzhou, 
      Guangdong 510005, China. Email: haimingyuan@sina.cn.
FAU - Hu, Changming
AU  - Hu C
FAU - Bi, Xin
AU  - Bi X
FAU - Yuan, Haiming
AU  - Yuan H
LA  - chi
PT  - Journal Article
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  - Autistic Disorder/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosome Duplication
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Female
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Phenotype
MH  - Prader-Willi Syndrome/*genetics
EDAT- 2018/02/09 06:00
MHDA- 2018/06/06 06:00
CRDT- 2018/02/09 06:00
PHST- 2018/02/09 06:00 [entrez]
PHST- 2018/02/09 06:00 [pubmed]
PHST- 2018/06/06 06:00 [medline]
AID - 940635005 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2018.01.005 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):23-28. doi: 
      10.3760/cma.j.issn.1003-9406.2018.01.005.