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Article

Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy.

American journal of medical genetics. Part A - 1 Jul 2013

Bassuk Alexander G, Geraghty Eileen, Wu Shu, Mullen Saul A, Berkovic Samuel F, Scheffer Ingrid E, Mefford Heather C

Abstract excerpt

Rare copy number variants (CNVs) have been established as an important cause of various neurodevelopmental disorders, including intellectual disability (ID) and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation. Here we present two siblings and their mother who have mild ID, short stature, obesity and seizures. Array CGH studies show that each affected individual has two...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 16

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 19

Share to DNA Copy Number Variations

Share to Epilepsy, Generalized

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Source

Open in PubMed Open full text

Identifiers

PMID: 23686817
DOI: 10.1002/ajmg.a.35946
PMCID: PMC4169108

Genes

ZNF44

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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