Barjaktarović N, Pendić B, Garzicić B, Popovic M, Paljm A
Nouv Presse Med. 1977 Jan 22;6(3):180-2.
Prenatal detection of "Cri du chat" syndrome, as the consequence of balanced translocation 46,XY,t (5, 15) (p 13, p11) of the father, is described. A phenotipically normal child, with the same type of translocation possesed by his father was born in this family, as well as a child with "Cri du chat" syndrome. Four pregnancies were termed by spontaneous abortion. In the seventh pregnancy amniocenthesis was performed. On the basis of cell culture of amniotic fluid the diagnosis of "Cri du chat" syndrome was established. The diagnosis was confirmed by culture of peripheral blood of prematurely born foetus. Tissue cultures of some fetal organs were performed in order to find the origin of amniotic cells whose culture served for screening cytogenetic analysis.
本文描述了因父亲的平衡易位46,XY,t(5,15)(p13,p11)导致的“猫叫综合征”的产前检测情况。这个家庭中出生了一个表型正常但具有与父亲相同类型易位的孩子，以及一个患有“猫叫综合征”的孩子。有四次妊娠以自然流产告终。在第七次妊娠时进行了羊膜腔穿刺术。基于羊水细胞培养确诊了“猫叫综合征”。通过早产胎儿的外周血培养进一步证实了诊断。为了找出用于筛查细胞遗传学分析的羊水细胞的来源，对一些胎儿器官进行了组织培养。
