Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability
Abstract Background Deletion or duplication on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotype including. intellectual disability and autism. Case presentation We report on a patient with intellectual disability and a 763.3 Kb duplication o...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-04-01
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Series: | Molecular Cytogenetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13039-019-0427-3 |