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Article

The chromosome 9q subtelomere deletion syndrome.

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

Stewart Douglas R, Kleefstra Tjitske

Abstract excerpt

The chromosome 9q subtelomere deletion syndrome (9qSTDS) is among the first and most common clinically recognizable syndromes to arise from widespread testing by fluorescent in situ hybridization (FISH) of subtelomere deletions. There are about 50 reported cases worldwide. Affected individuals invariably have severe hypotonia with speech and gross motor delay. The facial gestalt is distinct and features absolute...

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Topics

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Share to Abnormalities, Multiple
Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 9

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to In Situ Hybridization, Fluorescence

Share to Karyotyping

Share to Syndrome

Share to Telomere

Share to Translocation, Genetic

Source

Identifiers

PMID: 17910072
DOI: 10.1002/ajmg.c.30148

Genes

EHMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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