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Article

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

American journal of medical genetics. Part A - 1 Nov 2015

Morandi Anita, Bonnefond Amélie, Lobbens Stéphane, Carotenuto Marco, Del Giudice Emanuele Miraglia, Froguel Philippe, Maffeis Claudio

Abstract excerpt

The Prader-Willi syndrome (PWS) is caused by lack of expression of paternal allele of the 15q11.2-q13 region, due to deletions at paternal 15q11.2-q13 (<70%), maternal uniparental disomy of chromosome 15 (mat-UPD 15) (30%) or imprinting defects (1%). Hyperphagia, intellectual disabilities/behavioral disorders, neonatal hypotonia, and hypogonadism are cardinal features for PWS. Methylation sensitive PCR (MS-PCR)...

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Share to Chromosomes, Human, Pair 15
Share to DNA Methylation

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

Share to Electrophoresis, Agar Gel

Share to Mosaicism

Share to Oligonucleotide Array Sequence Analysis

Share to Prader-Willi Syndrome

Share to snRNP Core Proteins

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Source

Identifiers

PMID: 26109092
DOI: 10.1002/ajmg.a.37222

Genes

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.

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