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Article

A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.

Autism research : official journal of the International Society for Autism Research - 1 Jun 2011

Griswold Anthony J, Ma Deqiong, Sacharow Stephanie J, Robinson Joycelyn L, Jaworski James M, Wright Harry H, Abramson Ruth K, Lybaek Helle, Øyen Nina, Cuccaro Michael L, Gilbert John R, Pericak-Vance Margaret A

Abstract excerpt

Autism is a neuro-developmental disorder characterized by deficits in social interaction and communication as well as restricted interests or repetitive behaviors. Cytogenetic studies have implicated large chromosomal aberrations in the etiology of approximately 5-7% of autism patients, and the recent advent of array-based techniques allows the exploration of submicroscopic copy number variations (CNVs). We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 14

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Share to Methylenetetrahydrofolate Dehydrogenase (NADP)

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Share to Spherocytosis, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 21360829
DOI: 10.1002/aur.186
PMCID: PMC3110642

Genes

CHURC1
MTHFD1
PLEKHG3
SPTB

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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