Cat eye syndrome without anal atresia with the amplification of the ADA2 and IL17RA genes, a description of the clinical case
Cat eye syndrome is a rare chromosomal disorder with a highly variable clinical presentation. The characteristic features of CES include ocular coloboma, preauricular pits or tags, anal anomalies, and congenital heart and renal malformations. Objektive: refinement of the diagnosis in a child with congenital heart disease and stigmata of diesembriogenesis. The diagnosis is based on the presence of a supernumerary marker chromosome derived from chromosome 22. We present a clinical case description of a 4 year old girl with cat's syndrome without anus atresia. The diagnosis is established by the method next generation sequencing, NGS. The region 22q11.1 identified four copies of ADA2 and IL17RA genes. The presented case demonstrates a correlation between genetic rearrangement and phenotype manifestations. The duplication of the not entire dup (22) (q11) region, but only the proximal part of the chromosome 22 long shoulder, where the duplicated genes ADA2 and IL17RA are localized cause such manifestations of the phenotype: CHD, preauricular skin strands, coloboma of the iris and choroid of retina, delayed speech development, immunodeficiency, without anus atresia.