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Article

1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype.

European journal of medical genetics - 1 Jan 2000

Rødningen Olaug K, Prescott Trine, Eriksson Ann-Sofie, Røsby Oddveig

Abstract excerpt

We report two new patients with the 1.4Mb recurrent 22q11.2 distal deletion syndrome. Features common to both children, as well as to several of the previously reported cases, include normal palate, smooth philtrum, hypoplastic alae nasi and delayed development. Both children are small but not growth retarded, and are microcephalic. Their developmental delay is global and most pronounced for language acquisition....

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Identifiers

PMID: 18725332
DOI: 10.1016/j.ejmg.2008.07.007

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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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