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Article

Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2020

Mountford Hayley S, Bishop Dorothy V M, Thompson Paul A, Simpson Nuala H, Newbury Dianne F

Abstract excerpt

Sex chromosome trisomies (SCTs) (XXX, XXY, and XYY karyotypes) are associated with an elevated risk of neurodevelopmental disorders. The range of severity of the phenotype is substantial. We considered whether this variable outcome was related to the presence of copy number variants (CNVs)-stretches of duplicated or deleted DNA. A sample of 125 children with an SCT were compared with 181 children of normal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32452638
DOI: 10.1002/ajmg.c.31791

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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