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

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.

Human genetics - 1 Nov 1999

Thomas N S, Browne C E, Oley C, Healey S, Crolla J A

Abstract excerpt

A 3-year-old female referred with developmental delay, hypotonia and seizures was found to have a cryptic interstitial duplication of the Prader-Willi/Angelman critical region (PWACR). Her clinical features form part of a common phenotype characteristic of PWACR duplications including developmental delay, behavioural problems and speech difficulties. Microsatellite analysis showed that the duplication had arisen...

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 Chromosomes, Human, Pair 15
Share to Developmental Disabilities

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

Share to Gene Duplication

Share to Genomic Imprinting

Share to Prader-Willi Syndrome

Share to Seizures

Share to Speech Disorders

Source

Identifiers

PMID: 10598802
DOI: 10.1007/s004390051120

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

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.PMID 10598802Read ↗

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 ↗

Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairmentSemantic proximity Read ↗

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 ↗

Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome.Semantic proximity Read ↗

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

A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype.Semantic proximity Read ↗

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

Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling.Semantic proximity Read ↗

Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11‐q13Semantic 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 ↗

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 ↗

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