Case Report: Description of a Patient with Trisomy 22 in Inbred Line

摘要: Long arm trisomy of chromosome 22 or cat eye syndrome (OMIM#115470) is a disease with an enormous variability clinical features, ranging from minor malformations like hypertelorism, to major ones, as congenital heart and renal disorders, combined variable growth retardation. The authors report case newborn female features in inbred line, who died 35 days after birth. at the time diagnosis were: left preauricular appendix, low-set ears, mongoloid palpebral apertures, right-sided microphthalmia, left-sided anophthalmia, cleft lip palate, short neck, anomalous pulmonary venous return, severe lung hypertension, hyperechogenic little kidneys clinodactyly fifth finger on side. Cerebral ultrasound showed dilatation both lateral ventricles, callosum corpus difficult evaluate. cytogenetics diagnostic was made peripheral blood by conventional techniques two different laboratories, confirmed fluorescent situ hybridization.