Paul T, Reimer A, Wilken M, Miller K, Kallfelz H C
Abteilung Kinderheikunde III, Medizinische Hochschule Hannover.
Monatsschr Kinderheilkd. 1991 Apr;139(4):228-30.
In a cyanotic newborn with characteristic features of Cat-Eye-Syndrome, cytogenetic examination disclosed a supernumerary small bisatellited chromosome. Angiography showed Tetralogy of Fallot with pulmonary atresia and a narrow patent ductus arteriosus with additional stenosis of the bifurcation of the pulmonary artery. At an age of 14 weeks, the patient died after the attempt of corrective cardiac surgery. Congenital cardiac malformation is present in more than one third of patients with cat-eye-syndrome and is usually the lifelimiting malformation in this syndrome.
在一名具有猫眼综合征特征的青紫型新生儿中,细胞遗传学检查发现一条额外的小双着丝粒染色体。血管造影显示法洛四联症合并肺动脉闭锁以及一条狭窄的动脉导管未闭,且肺动脉分叉处存在额外狭窄。患儿在14周龄时,在进行心脏矫正手术尝试后死亡。先天性心脏畸形在超过三分之一的猫眼综合征患者中存在,并且通常是该综合征中的限制生命的畸形。