Breakpoints Identification Of A Balanced Complex Chromosome Rearrangement Case: 46,Xx, T(6;15;10;9)(Q13;Q15;P11.2;Q34.3) Ins(9;8)(Q22.33;Q21.1q21.3)

Background: Balanced complex chromosome rearrangement (CCR) carriers are phenotypically normal but at high risk of reproductive failure, recurrent miscarriages, and affected offspring, so that cytogenetic characterizations of CCR carriers are crucial.Methods: We report a case of CCR: 46,XX, t(6;15;10;9)(q13;q15;p11.2;q34.3) ins(9;8)(q22.33;q21.1q21.3). The peripheral blood was collected for karyotyping, single nucleotide polymorphism array ( SNP-array) analysis, and whole genome mate-pair sequencing.Results: The patient's karyotype is detected and identified as 46,XX, t(6;15;10;9)(q13;q15;p11.2;q34.3) ins(9;8) (q22.33;q21.1q21.3), with no significant duplication and deletion found by SNP-array analysis. There are 16 breakpoints among chromosomes 6, 8, 9, 10, and 15 identified by whole genome sequencing.Conclusions: With a variety of detection techniques, we can deeply study the genetic characteristics of CCRs, thus providing a basis for genetic counseling and choice of fertility.