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

J Burn; A Takao; D Wilson; I Cross; K Momma; R Wadey; P Scambler; J Goodship

doi:10.1136/jmg.30.10.822

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

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

Authors

J Burn¹, A Takao, D Wilson, I Cross, K Momma, R Wadey, P Scambler, J Goodship

Affiliation

¹ Division of Human Genetics, University of Newcastle upon Tyne.

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.

MeSH terms

Abnormalities, Multiple / genetics*
Adult
Child
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Face / abnormalities*
Female
Gene Deletion
Heart Defects, Congenital / genetics*
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Syndrome
Tetralogy of Fallot / genetics