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Article

22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes.

Genetic counseling (Geneva, Switzerland) - 1 Jan 1999

Vincent M C, Heitz F, Tricoire J, Bourrouillou G, Kuhlein E, Rolland M, Calvas P

Abstract excerpt

22q11.2 deletion is a common genetic disorder characterised by a wide spectrum of clinical manifestations. To date no simple genotype-phenotype correlation has been established. Moreover, several reports have mentioned phenotypic discordance between monozygotic twins. No definite mechanism has been demonstrated and mosaicism, a postzygotic second hit, environmental effects and chance events have been proposed....

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

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PMID: 10191428

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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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