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一对反复发生胎儿丢失的夫妇中,男方为罗伯逊易位t(13q;14q),女方为相互易位t(7p;13q) 。

Paternal Robertsonian translocation t(13q;14q) and maternal reciprocal translocation t(7p;13q) in a couple with repeated fetal loss.

作者信息

Scarbrough P R, Carroll A J, Younger J B, Finley S C

出版信息

J Med Genet. 1984 Dec;21(6):463-4. doi: 10.1136/jmg.21.6.463.

Abstract

Marriages involving partners both of whom have abnormal karyotypes are rare and are usually ascertained because of a history of infertility, repeated abortions, or the birth of a balanced translocation carrier or chromosomally abnormal offspring. Abnormalities which have been noted include sex chromosome aberrations in both parents or a sex chromosome abnormality in one parent and an autosomal abnormality in the other. Four papers have reported balanced reciprocal autosomal translocations in both parents, two couples representing a first cousin marriage. We present a case of a paternal 13;14 Robertsonian translocation and a maternal (7p;13q) reciprocal translocation in a couple with repeated fetal loss.

摘要

夫妻双方核型均异常的婚姻较为罕见,通常因不孕史、反复流产史,或生育出平衡易位携带者或染色体异常后代的病史而被确诊。已发现的异常情况包括父母双方均存在性染色体畸变,或一方存在性染色体异常而另一方存在常染色体异常。有四篇论文报道了父母双方均存在平衡的常染色体相互易位,其中两对夫妻为近亲结婚。我们报告了一对有反复胎儿丢失史的夫妻,男方为13;14罗伯逊易位,女方为(7p;13q)相互易位。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d9b/1049349/fb384f0951b5/jmedgene00104-0063-a.jpg

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