A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family-Reference-Cited by-同舟云学术

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A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

Published:2020-06-04 Issue:1 Volume:13 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Xi Hui,Peng Ying,Xie Wanqin,Pang Jialun,Ma Na,Yang Shuting,Peng Jinping,Wang Hua

Funder

Hunan Provincial Science and Technology Department

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-020-00483-5.pdf

Reference20 articles.

1. Cappuccio G, Vitiello F, Casertano A, et al. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants. Ital J Pediatr. 2016;42:39.

2. Vasudevan P, Suri M. A clinical approach to developmental delay and intellectual disability. Clin Med (Lond). 2017;17(6):558–61.

3. Srour M, Shevell M. Genetics and the investigation of developmental delay/intellectual disability. Arch Dis Child. 2014;99(4):386–9.

4. Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018;109(2):201–12.

5. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749–64.

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