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本文对曾分娩过Patau综合征患儿的妇女(24岁)进行了产前诊断。对妊娠16周的羊水标本进行细胞遗传学研究,显示胎儿有一个异常的13号染色体。用GTG,CBG和NOR带技术显示母亲有如胎儿一样异常的13号染色体。在绝对长度上,异常染色体与它的同源染色体相似,但短臂长度增长,长臂相对缩短。长臂13q12-13q14缺失片段转移至短臂,并插入至13p13。父亲的核型为46,XY。第一个畸形孩子染色体研究确定为13号染色
This article prenatal diagnosis of women who have had childbirth in Patau’s syndrome (24 years old). A cytogenetic study of amniotic fluid specimens at 16 weeks gestation showed that the fetus had an abnormal chromosome 13. Using the GTG, CBG and NOR band techniques, the mother showed a fetus-like abnormality in chromosome 13. In absolute length, the anomalous chromosome is similar to its homologous chromosome, but the length of the short arm is increased and the length of the long arm is relatively shortened. Long arm 13q12-13q14 deletion fragment was transferred to the short arm and inserted into 13p13. My father’s karyotype is 46, XY. The first abnormal child chromosome study identified as No. 13 staining