Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.
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.
Burn
J
J
Division of Human Genetics, University of Newcastle upon Tyne.
Takao
A
A
Wilson
D
D
Cross
I
I
Momma
K
K
Wadey
R
R
Scambler
P
P
Goodship
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005145:Face / Q000002:abnormalities*; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000235:genetics