Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

Abstract

Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

From ‘Lion Face’ to ‘Butterfly Eruption’: Zoomorphic Metaphors as Messengers of Facial Anomalies

“…The three main characteristic clinical symptoms identifying cat-eye syndrome are preauricular anomalies, anorectal malformations, and coloboma of the iris. (Jedraszak et al, 2015).…”

Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis

“…However, prenatal ultrasound did not detect eye or kidney anomalies. Multiple cases have been reported involving candidate CECR2 gene without ocular defects [ 23 , 24 ]. Therefore, except for the gene dose effect, the interaction of upstream and downstream regulating elements of the above-mentioned genes, as well as gene-environment interactions, may be responsible for the penetrance and phenotype differences associated with CES.…”

Cat eye syndrome without anal atresia with the amplification of the ADA2 and IL17RA genes, a description of the clinical case

“…Кілька вроджених вад розвитку, які пере криваютьися із CES, а саме преаурикулярні шкірні тяжі та/або фістули, мікрогнатія, вро джені вади серця можуть виникати внаслідок сімейної транслокації t (11; 22) у синдромі der (22), а в окремих випадках -внаслідок дуплі кації інвертованої ділянки 22q11 [8,9]. Прокси мальна частина довгого плеча хромосоми 22 (22q11.2) була визнана «гарячим місцем» для перебудови хромосом і містить критичний регіон синдрому CES та Ді Джорджі [10], займає приблизно 2,1 Мб і містить щонаймен ше 14 генів [13].…”