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Article

Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture.

Psychiatry research - 30 May 2012

Tuţulan-Cuniţă Andreea Cristina, Budişteanu Magdalena, Papuc Sorina Mihaela, Dupont Jean-Michel, Blancho Dominique, Lebbar Aziza, Viot Géraldine, Lungeanu Agripina, Arghir Aurora

Abstract excerpt

22q11.2 deletion syndrome, the most common microdeletion syndrome, exhibits a broad range of phenotypes, implying a cumbersome diagnosis due to atypical or paucisymptomatic presentations. We present two atypical cases of 22q11.2 deletion syndrome and suggest a preferential occurrence of the breakpoints in regions poor in repetitive elements of SINE/Alu family.

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Identifiers

PMID: 22365273
DOI: 10.1016/j.psychres.2011.11.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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