Cat eye syndrome owing to tetrasomy 22pter leads to q11.
A case of tetrasomy 22pter leads to q11 with ocular hypertelorism, downward slanting palpebral fissures, total anomalous pulmonary venous return, and anal atresia is described. The phenotypic variability of the cat eye syndrome is emphasised along with the need for categorisation of these patients according to well characterised cytogenetic findings.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D002871:Chromosome Banding; D002904:Chromosomes, Human, 21-22 and Y; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D013577:Syndrome