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Article

Interstitial 15q deletion without a classic Prader-Willi phenotype.

American journal of medical genetics - 15 Mar 1991

Galán F, Aguilar M S, González J, Clemente F, Sánchez R, Tapia M, Moya M

Abstract excerpt

We report on a newborn boy with pronounced hypotonia, cryptorchidism, minor facial anomalies, congenital heart defect, neurologic anomaly, deafness, renal anomaly, and bifid uvula. The patient has a de novo proximal interstitial deletion of chromosome 15 reaching to band q14, larger than that usually seen in Prader-Willi and Angelman syndromes.

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Share to Chromosome Banding
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 15

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

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Source

Identifiers

PMID: 2063892
DOI: 10.1002/ajmg.1320380406

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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