Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

doi:10.1086/301624

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Article

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

American journal of human genetics - 1 Dec 1997

Browne C E, Dennis N R, Maher E, Long F L, Nicholson J C, Sillibourne J, Barber J C

Abstract excerpt

We present the cytogenetic, molecular cytogenetic, and molecular genetic results on 20 unrelated patients with an interstitial duplication of the proximal long arm of chromosome 15. Multiple probes showed that the Prader-Willi/Angelman critical region (PWACR) was included in the duplication in 4/...

Topics

Adult
Angelman Syndrome
Child, Preschool
Chromosomes, Human, Pair 15
Cosmids
Diseases in Twins
Female
Fetal Diseases
Genomic Imprinting
Humans
In Situ Hybridization, Fluorescence
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Male

Multigene Family

Pedigree

Phenotype

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 9399882
DOI: 10.1086/301624
PMCID: PMC1716086

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9399882-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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