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Frequent association of 22q11.2 deletion with tetralogy of Fallot

5 Jun 2000

Abstract excerpt

Chromosome 22q11.2 deletion causes DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome with tetralogy of Fallot (TOF), and sporadic or familial TOF. To determine the prevalence and clinical importance of the 22q11.2 deletion in TOF, a series of 212 Japanese TOF patients was studied. The type of pulmonary blood supply, which may lead to various clinical outcomes, and other additional...

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PMID: 10842294
DOI: 10.1002/(sici)1096-8628(20000605)92:4<269::aid-ajmg9>3.0.co;2-l

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