Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.

Journal of autism and developmental disorders - 1 Apr 2007

Kwasnicka-Crawford Dorota A, Roberts Wendy, Scherer Stephen W

Abstract excerpt

Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome (PWS/AS) critical region have been described in individuals with autism. Maternal duplications and linkage disequilibrium in families with autism suggest the existence of a susceptibility locus at 15q11-q13. Here, we describe a 6-year-old girl diagnosed with autism, developmental delay, and delayed expressive and receptive language. The karyotype was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Angelman Syndrome
Share to Chromosome Banding

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

Share to Chromosomes, Human, Pair 15

Share to Language Development Disorders

Share to Personality Assessment

Share to Prader-Willi Syndrome

Share to Statistics as Topic

Share to Uniparental Disomy

Source

Identifiers

PMID: 17006779
DOI: 10.1007/s10803-006-0225-8

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.PMID 17006779Read ↗

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.Semantic proximity Read ↗

[Analysis of 10 patients with duplications of 15q11q13 region and autism features].Semantic proximity Read ↗

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.Semantic proximity Read ↗

Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.Semantic proximity Read ↗

Array‐based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangementsSemantic proximity Read ↗

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.Semantic proximity Read ↗

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)Semantic proximity Read ↗

Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement.Semantic proximity Read ↗

The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.Semantic proximity Read ↗

Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases.Semantic proximity Read ↗

15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.Semantic proximity Read ↗

A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.