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

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.

European journal of medical genetics - 1 Jan 2000

Zilina Olga, Kahre Tiina, Talvik Inga, Oiglane-Shlik Eve, Tillmann Vallo, Ounap Katrin

Abstract excerpt

Prader-Willi syndrome (PWS) is caused by the lack of paternal expression of imprinted genes in the human chromosomal region 15q11.2-q13.2, which can be due to an interstitial deletion at 15q11.2-q13 of paternal origin (65-75%), maternal uniparental disomy (matUPD) of chromosome 15 (20-30%), or an imprinting defect (1-3%). The majority of PWS-associated matUPD15 cases represent a complete heterodisomy of...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 15
Share to Microarray Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mosaicism

Share to Mothers

Share to Multiplex Polymerase Chain Reaction

Share to Prader-Willi Syndrome

Share to snRNP Core Proteins

Share to Uniparental Disomy

Source

Identifiers

PMID: 24704109
DOI: 10.1016/j.ejmg.2014.03.007

Genes

NDN
SNRPN

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.PMID 24704109Read ↗

A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.Semantic proximity Read ↗

Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report.Semantic proximity Read ↗

Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype.Semantic proximity Read ↗

Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15.Semantic proximity Read ↗

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.Semantic proximity Read ↗

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.Semantic proximity Read ↗

Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).Semantic proximity Read ↗

Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.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 ↗

Loss of Heterozygosity on the Distal Long Arm of Chromosome 15: An Allusion for Prader-willi Syndromes?Semantic proximity Read ↗

Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biologySemantic proximity Read ↗

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.Semantic proximity Read ↗

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