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