Direct and inverted reciprocal chromosome insertions between chromosomes 7 and 14 in a woman with recurrent miscarriages.
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.
Wang
Y T
YT
Institute of Medical Genetics, Henan Province Hospital, Zheng Zhou, P. R. China.
Bajalica
S
S
Han
F Y
FY
Wang
Z C
ZC
Bui
T H
TH
Xie
Y G
YG
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002883:Chromosomes, Human, Pair 14 / Q000648:ultrastructure; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011247:Pregnancy