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Article

A novel 5q35.3 subtelomeric deletion syndrome.

American journal of medical genetics. Part A - 15 Aug 2003

Rauch Anita, Beese Maike, Mayatepek Ertan, Dörr Helmut-Günther, Wenzel Dieter, Reis André, Trautmann Udo

Abstract excerpt

We observed a novel 3.5 Mb 5q subtelomeric deletion in a 3-year-old girl with developmental delay, hypotonia and multiple minor anomalies. Comparison of her phenotype with the few published patients with terminal 5q35 deletions revealed several overlapping features, but also showed remarkable differences such as shortness of stature versus macrosomia. After the report of 5q35.3 microdeletions in Sotos syndrome we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12900893
DOI: 10.1002/ajmg.a.20173

Genes

FLT4
LCT

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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