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Article

Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies.

American journal of medical genetics. Part A - 15 Dec 2004

Ehling Daniela, Kennerknecht Ingo, Junge Annelore, Prager Bettina, Exeler Rita, Behre Beate, Horst Juergen, Schmitt-John Thomas, Bartsch Oliver, Wirth Jutta

Abstract excerpt

We describe two unrelated patients with cytogenetically visible deletions of 21q22.2-q22.3 and mild phenotypes. Both patients presented minor dysmorphic features including thin marfanoid build, facial asymmetry, downward-slanting palpebral fissures, depressed nasal bridge, small nose with bulbous tip, and mild mental retardation (MR). FISH and molecular studies indicated common deleted areas but different...

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

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Source

Identifiers

PMID: 15534873
DOI: 10.1002/ajmg.a.30361

Genes

ETS2

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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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