Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.
case_series · Level IV
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- Record sourced from PubMed, PMID 8230157.
- Also identified by PMC identifier 1016562.
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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.
Medical subject headings
- Abnormalities, Multiple
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- Face
- Heart Defects, Congenital