一种家族性X染色体与常染色体易位，其断点位于“关键区域”。
A familial X-autosome translocation with the breakpoint in the "critical region".
作者信息
Diedrich U, Hansmann I
出版信息
Hum Genet. 1985;70(3):281-3. doi: 10.1007/BF00273458.
PMID:4018792
Abstract
We report a case of an X-autosome translocation t(X;4)(q13;p16) found in both sexes in three generations. The anomaly was diagnosed in a couple referred for cytogenetic investigation as a result of three spontaneous abortions. With the exception of the miscarriages there are no particularities in the gynecologic data of the woman or in the pedigree. In all 50 lymphocytes and in 66 of 68 fibroblasts investigated the normal X chromosome was the late replicating one.
摘要
我们报告了一个三代人中男女均出现的X-常染色体易位t(X;4)(q13;p16)的病例。这对夫妇因三次自然流产前来进行细胞遗传学检查时被诊断出这种异常情况。除流产外，该女性的妇科数据或家系中均无特殊情况。在所有检测的50个淋巴细胞以及68个成纤维细胞中的66个中，正常的X染色体是晚复制的那条。
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