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Direct and inverted reciprocal chromosome insertions between chromosomes 7 and 14 in a woman with recurrent miscarriages.

作者信息

Wang Y T, Bajalica S, Han F Y, Wang Z C, Bui T H, Xie Y G

机构信息

Institute of Medical Genetics, Henan Province Hospital, Zheng Zhou, P. R. China.

出版信息

Am J Med Genet. 1994 Sep 1;52(3):349-51. doi: 10.1002/ajmg.1320520319.

Abstract

We present the first case of direct and inverted reciprocal chromosome insertions between human chromosomes 7 and 14, ascertained because of repeated spontaneous abortions. Prometaphase GTG banding analysis showed the karyotype to be 46, XX, inv ins (7;14)(7pter-->7q11.23::14q32.2-->14q 22::7q21.2-->7qter), dir ins(14;7)(14pter-->14q 22::7q11.23-->7q21.2::14q32.2-->14qter). Origins of the insertion have been confirmed by chromosome painting with libraries specific for chromosomes 7 and 14 using fluorescence in situ hybridization.

摘要

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