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Article

D-transposition of the great arteries in a case of microduplication 22q11.2.

Pediatric cardiology - 1 Nov 2008

Laitenberger Gitta, Donner Birgit, Gebauer Juergen, Hoehn Thomas

Abstract excerpt

The 22q11.2 deletion syndrome is one of the most frequent genetic syndromes, mainly characterized by cleft palate, facial dysmorphism, conotruncal heart malformations and immune deficiencies. Microduplication of the 22q11.2 region is a quite recently characterized genetic entity comprising a variable phenotype including some overlapping features with the 22q11.2 deletion syndrome. So far only few reports of...

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PMID: 18043858
DOI: 10.1007/s00246-007-9150-7

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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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