Wang Y T, Bajalica S, Han F Y, Wang Z C, Bui T H, Xie Y G
Institute of Medical Genetics, Henan Province Hospital, Zheng Zhou, P. R. China.
Am J Med Genet. 1994 Sep 1;52(3):349-51. doi: 10.1002/ajmg.1320520319.
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.