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Article

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.

European journal of medical genetics - 1 Apr 2015

Vergaelen Elfi, Swillen Ann, Van Esch Hilde, Claes Stephan, Van Goethem Gert, Devriendt Koenraad

Abstract excerpt

In this case report, we present a paternal transmission of a classic 3 Mb 22q11.2 deletion syndrome (22q11.2 DS) in a 3 generation family. In this family a young girl, her father, her uncle and her grandfather were diagnosed with this disorder. All carriers showed phenotypic expression, there were no unaffected siblings in the second or third generation. Presenting symptoms in the patient in first generation...

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PMID: 25655469
DOI: 10.1016/j.ejmg.2015.01.008

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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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