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

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15.

American journal of medical genetics - 11 Jul 1997

Gunay-Aygun M, Heeger S, Schwartz S, Cassidy S B

Abstract excerpt

Prader-Willi syndrome (PWS) results from absence of the normally active paternally inherited genes on proximal 15q, due to del(15)(q11q13) or by maternal uniparental disomy (UPD) 15 in most cases. In addition to a higher frequency of hypopigmentation among deletion patients, minor phenotypic differences between deletion and UPD patients have recently been reported, including lower birth weight in the deletion...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool
Share to Chromosome Aberrations

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

Share to Chromosomes, Human, Pair 15

Share to Gene Deletion

Share to In Situ Hybridization, Fluorescence

Share to Phenotype

Share to Prader-Willi Syndrome

Source

Identifiers

PMID: 9215778

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

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15.PMID 9215778Read ↗

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15Semantic proximity Read ↗

The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.Semantic proximity Read ↗

Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An UpdateSemantic proximity Read ↗

Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.Semantic proximity Read ↗

The Changing Purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised CriteriaSemantic proximity Read ↗

Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities.Semantic proximity Read ↗

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.Semantic proximity Read ↗

Clinical and genetic features of Prader-Willi syndrome in China.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 ↗

Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.Semantic proximity Read ↗

Newborn screening for Prader–Willi syndrome is feasible: Early diagnosis for better outcomesSemantic proximity Read ↗

Atypical 15q11.2-q13 Deletions and the Prader-Willi PhenotypeSemantic proximity Read ↗

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