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Article

Chromosome 5q subtelomeric deletion syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Nov 2007

Rauch Anita, Dörr Helmuth-Günther

Abstract excerpt

The pure 3.5 Mb subtelomeric deletion syndrome is very rare but causes a recognizable phenotype characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature with delayed bone age due to growth hormone deficiency, and multiple minor anomalies including mildly bell-shaped chest, minor congenital heart defects, and...

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Topics

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Share to Chromosome Mapping
Share to Chromosomes, Human, Pair 5
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17910075
DOI: 10.1002/ajmg.c.30151

Genes

NSD1

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.

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