Subrt I, Stirská K
Institute for the Care of Mother and Child, Prague, Czechoslovakia.
Hum Genet. 1988 Oct;80(2):195-6. doi: 10.1007/BF00702871.
A cytogenetic study of a family with t(17;22) is presented. The translocation has been detected in four generations. The proband was a female who has had ten pregnancies, seven of which had resulted in spontaneous abortion. The material of five aborted fetuses was available for cytogenetic examination. The karyotypes revealed four different forms of chromosomal imbalance, most of them due to 3:1 segregation. The only living proband's offspring was born after amniocentesis and had a balanced translocation t(17;22).
本文报道了一个患有t(17;22)的家系的细胞遗传学研究。这种易位在四代人中都被检测到。先证者是一名女性,她曾怀孕10次,其中7次导致自然流产。有5个流产胎儿的材料可用于细胞遗传学检查。核型显示出四种不同形式的染色体不平衡,其中大多数是由于3:1分离所致。先证者唯一存活的后代是在羊膜穿刺术后出生的,其具有平衡易位t(17;22)。