Literature DB >> 25956375

A novel 47.2 Mb duplication on chromosomal bands Xq21.1-25 associated with mental retardation.

Zhijuan Jin1, Li Yu2, Juan Geng3, Jian Wang3, Xingming Jin4, Hong Huang5.   

Abstract

We present array comparative genomic hybridization (aCGH) characterization of a novel Xq21.1-25 duplication in a 2-year-old girl with facial dysmorphism, mental retardation and short stature. Analysis of aCGH results revealed a 47,232kb duplication region that harbored 231 RefSeq genes, including 32 OMIM genes. Ten genes (i.e., ZNF711, SRPX2, RAB40AL, MID2, ACSL4, PAK3, UBE2A, UPF3B, CUL4B, and GRIA3) in the duplication interval have been associated with mental retardation. We discuss the genotype-phenotype correlation in this case. Our case provides evidence for an association of mental retardation with X chromosome duplication.
Copyright © 2015 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Array CGH; Duplication; Mental retardation; Xq21.1–25

Mesh：

Year:  2015        PMID： 25956375     DOI： 10.1016/j.gene.2015.04.083

Source DB:  PubMed          Journal:  Gene        ISSN： 0378-1119            Impact factor:   3.688


  6 in total

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3.  Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications.

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Journal:  Genes (Basel)       Date:  2021-04-23       Impact factor: 4.096

4.  The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.

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5.  A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.

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6.  Genomic imbalances defining novel intellectual disability associated loci.

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  6 in total

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