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)

作者：Li, Bohong; Li, Suli; Luo, Fuwei; Yang, Chuanchun; Xie, Jiansheng^*

来源：Clinical Laboratory, 2021, 67(4): 1095-1099.

DOI：10.7754/Clin.Lab.2020.200829

• complex chromosome rearrangement
• complex chromo-some translocation
• female CCR carriers
• abortion

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.

• 单位
  南方医科大学; 1