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Article

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p.

BMC medical genetics - 11 Dec 2014

Demily Caroline, Rossi Massimiliano, Chesnoy-Servanin Gabrielle, Martin Brice, Poisson Alice, Sanlaville Damien, Edery Patrick

Abstract excerpt

BACKGROUND: Deletions or duplications of chromosome 19 are rare and there is no previous report in the literature of a ring chromosome derived from proximal 19p. Copy Number Variants (CNVs) responsible for complex phenotypes with Social Communication Disorder (SCD), may contribute to improve knowledge about the distinction between intellectual deficiency and autism spectrum disorders. CASE PRESENTATION: We report...

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Share to Chromosomes, Human, Pair 19
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25496186
DOI: 10.1186/s12881-014-0132-3
PMCID: PMC4411819

Genes

SCD

Provenance

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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