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Article

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

American journal of medical genetics - 12 Feb 1999

Mohandas T K, Park J P, Spellman R A, Filiano J J, Mamourian A C, Hawk A B, Belloni D R, Noll W W, Moeschler J B

Abstract excerpt

Interstitial duplications of proximal 15q containing the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region have been found in patients with autism or atypical autism. In these cases with an abnormal phenotype, the duplications were maternally derived. Paternal origin of the duplication has been associated with a normal phenotype. We report on a patient who presented with nonspecific developmental delay and...

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Source

Identifiers

PMID: 10051161

Genes

GABRB3
SNRPN

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.PMID 10051161Read ↗

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 ↗

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

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.Semantic proximity Read ↗

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

An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype.Semantic proximity Read ↗

Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.Semantic proximity Read ↗

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.Semantic proximity Read ↗

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

Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprintingSemantic proximity Read ↗

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.Semantic proximity Read ↗

Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.Semantic 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 ↗

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