Analysis of 10 patients with duplications of 15q11q13 region and autism features.
10.3760/cma.j.issn.1003-9406.2018.01.005
- VernacularTitle:10例伴15q11q13拷贝数重复的自闭症患者的临床及遗传学研究
- Author:
Weipeng WANG
1
;
Changming HU
;
Xin BI
;
Haiming YUAN
Author Information
1. 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.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2018;35(1):23-28
- CountryChina
- Language:Chinese
-
Abstract:
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.
