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Article

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.

PloS one - 1 Jan 2017

Grau Christina, Starkovich Molly, Azamian Mahshid S, Xia Fan, Cheung Sau Wai, Evans Patricia, Henderson Alex, Lalani Seema R, Scott Daryl A

Abstract excerpt

By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapping deletions of Xp11.22. The maximum region of overlap between their deletions spanned ~430 kb and included two...

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Topics

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Share to Antigens, Neoplasm
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Duplication

Share to Chromosomes, Human, X

Share to Comparative Genomic Hybridization

Share to Genes, X-Linked

Share to Peptide Termination Factors

Share to X Chromosome Inactivation

Source

Open in PubMed Open full text

Identifiers

PMID: 28414775
DOI: 10.1371/journal.pone.0175962
PMCID: PMC5393878

Genes

GSPT2
MAGED1
CENPVL1
CENPVL2

Provenance

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