Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies

Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies

Abstract Background The clinical features of Down syndrome vary among individuals, with those most common being congenital heart disease, intellectual disability, developmental abnormity and dysmorphic features. Complex combination of Down syndrome phenotype could be produced by partially copy numbe...

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Bibliographic Details
Main Authors: Wenfu Li, Xianfu Wang, Shibo Li
Format: Article
Language:English
Published: BMC 2018-08-01
Series:Molecular Cytogenetics
Subjects:
Chromosome 21
Microarray
CNV
Genotype-phenotype association
CXADR
DYRK1A
Online Access:http://link.springer.com/article/10.1186/s13039-018-0391-3

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http://link.springer.com/article/10.1186/s13039-018-0391-3

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