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Tricuspid atresia and 22q11 deletion

✍ Scribed by Marino, Bruno; Digilio, Maria Cristina; Novelli, Giuseppe; Giannotti, Aldo; Dallapiccola, Bruno

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 20 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971003)72:1<40::aid-ajmg8>3.0.co;2-z

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✦ Synopsis

Tricuspid atresia has not been reported in 22q11 microdeletions causing DiGeorge and velo-cardio-facial syndromes. We investigated the prevalence of 22q11 hemizygosity in 26 children with tricuspid atresia. Fluorescent hybridization with the Sc11.1 probe demonstrated a 22q11 microdeletion in 2 patients, one with and another without transposition of the great arteries. Both deletion patients had minor facial anomalies characteristic of DiGeorge syndrome. The present observations suggest that tricuspid atresia should be included in the list of cardiac malformations seen in del22q11 syndromes.

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