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一个大家族中12号染色体短臂末端与14号染色体长臂1区1带之间发生的罕见易位。

An unusual translocation between 12tel and 14q11 in a large kindred.

作者信息

Palanduz S, Ustek D, Karaman B, Oztürk S, Cefle K, Başaran S

机构信息

Department of Internal Medicine, Istanbul Faculty of Medicine, Turkey.

出版信息

Hereditas. 1998;128(3):231-4. doi: 10.1111/j.1601-5223.1998.00231.x.

Abstract

In one couple investigated because of recurrent abortions, the female was found to have an unusual translocation between the long arm of the telomeric region of chromosome 12 and the long arm of the chromosome 14 at band q11. We studied ten additional members of the family who were under the risk of the same chromosomal rearrangement, and four of them were found to be carriers. The diagnosis of this translocation was determined using different banding techniques and FISH. The karyotype was found to be 45,XX,t(12;14)(qtel;q11).

摘要

在一对因反复流产而接受调查的夫妇中,发现女性在12号染色体端粒区域的长臂与14号染色体长臂q11带之间存在异常易位。我们研究了该家族中另外十名有相同染色体重排风险的成员,发现其中四人是携带者。使用不同的显带技术和荧光原位杂交(FISH)确定了这种易位的诊断。核型为45,XX,t(12;14)(qtel;q11)。

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