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Clinical Application of chromosome microarray analysis in Han Chinese Children with Neurodevelopmental Disorders

Neuroscience Bulletin 2018年第6期34卷 981-991页

作者： Mingyu Xu Yiting Ji Ting Zhang Xiaodong Jiang Yun Fan Juan Geng Fei Li Developmental and Behavioral Pediatric &Child Primary Care Department Ministry of Education-Shanghai Key Laboratory of Children's Environmental HealthXinhua HospitalShanghai Jiao Tong University School of MedicineShanghai 200092China Shanghai Children's Medical Center Shanghai Jiao Tong University School of MedicineShanghai 200127China Hangzhou Joingenome Diagnostics Hangzhou 311188China Wuhan Children's Hospital Tongji Medical CollegeHuaz-hong University of Science and TechnologyWuhan 430016China Shanghai Institute of Pediatric Research Xinhua HospitalShanghai Jiao Tong University School of MedicineShang-hai 200092China

chromosome microarray analysis(CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this *** analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. The overall diagnostic yield for our patients was 13.6%(59 out of 434). This gave a detection rate of 14.7%for developmental delay/intellectual disability(DD/ID,38/259) and 12% for autism spectrum disorders(ASDs,21/175). Thirty-three recurrent(n≥2) variants were found, distributed at six chromosomal loci involving known chromosome syndromes(such as DiGeorge, Williams Beuren, and Angelman/Prader-Willi syndromes).The spectrum of positive copy number variants in our study was comparable to that reported in Caucasian populations, but with specific characteristics. Parental origin tests indicated an effect involving a significant maternal transmission bias to sons. The majority of patients with positive results(94.9%) had benefits, allowing earlier diagnosis(36/59), prioritized full clinical management(28/59), medication changes(7/59), a changed prognosis(30/59), and prenatal genetic counseling(15/59). Our results provide information on de novo mutations in Chinese children with DD/ID and/or ASDs. Our data showed that microarray testing provides immediate clinical utility for patients. It is expected that the personalized medical care of children with developmental disabilities will lead to improved outcomes in long-term developmental *** advocate using the diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility.

关键词： chromosome microarray analysis Neurode velopmental disorder Autism spectrum disorder Chro mosome syndrome Clinical management

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46,XY,9(p24)dup(2q35q37.3)with Cryptorchidism:A Case Report and Literature Review

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Reproductive and Developmental Medicine 2019年第4期3卷 256-259页

作者： Han‑Zhi Wu Chao Lou Li Liu Cui‑Yun Qin Hongmin Yan Rong Qiang Department of Genetics Northwest Women’s and Children’s HospitalXi’an 710061China

A young boy with a facial abnormality was brought to our genetics *** examination found bilateral *** clinical genetic tests,including chromosome microarray analysis(CMA),karyotyping,and azoospermia factor(AZF)microdeletions on the Y chromosome,were used to identify the genetic basis for this *** karyotype showed a duplication of the chromosome 2q35q37.3 fragment attached to chromosome 9(p24);CMA revealed 2q35q37.3(220,558,895-243,006,013)x3;the Y chromosome showed no AZF microdeletions;and the parent karyotypes were *** has been planned to correct cryptorchidism a year after the original examination.A similar case was found previously.

关键词： Azoospermia Factor chromosome microarray analysis Cryptorchidism Karyotype Partial Trisomy of chromosome

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