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. 1993 Oct;30(10):822-4.
doi: 10.1136/jmg.30.10.822.

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

J Burn  1 , A Takao, D Wilson, I Cross, K Momma, R Wadey, P Scambler, J Goodship
Affiliations

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

J Burn et al. J Med Genet. 1993 Oct.

Abstract

The conotruncal anomaly face syndrome was described in a Japanese publication in 1976 and comprises dysmorphic facial appearance and outflow tract defects of the heart. The authors subsequently noted similarities to Shprintzen syndrome and DiGeorge syndrome. Chromosome analysis in five cases did not show a deletion at high resolution, but fluorescent in situ hybridisation using probe DO832 showed a deletion within chromosome 22q11 in all cases.

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