摘要
先证者女汉族24岁,身高1.61米.体重60.1公斤。因连续生两胎畸形儿夭折就诊。第一胎为足月顺产,唇裂、腭裂.双脚各为6趾,50天时因呼吸道感染而死亡。第二胎.足月顺产,体征似第一胎,生下两天死亡。外周血染色体检查,分别计数50个细胞,G 显带分析20个核型均为46,xx.Inv(13)(p12 q14)臂间倒位.患者父亲及其兄长核型与患者相同。其丈夫体征与核型均正常。其姐、妹及母亲因居住内地未查,患者哥及姐所生子女表形均无异常。
Based on the abnormal karyotype of the proband Inv (13)(p12 q14) wechecked and analysed the proband family history and a cytogenetic examination was carriedout in some of the family members.We found the karyotype of the proband's father andbrothers is identical to the proband's(Inv(13)(p12 q14).It is really rare in literature relatedto family tree with chromosomal aberration.This case is worth studying both in the cytoge-netics and medical genetics.
出处
《新疆农业大学学报》
CAS
1993年第4期58-59,共2页
Journal of Xinjiang Agricultural University
