Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures

Ewelina Lazarczyk; Malgorzata Drozniewska; Magdalena Pasinska; Beata Stasiewicz-Jarocka; Alina T Midro; Olga Haus

doi:10.1186/s13039-014-0083-6

Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures

Mol Cytogenet. 2014 Nov 19;7(1):83. doi: 10.1186/s13039-014-0083-6. eCollection 2014.

Authors

Ewelina Lazarczyk¹, Malgorzata Drozniewska², Magdalena Pasinska¹, Beata Stasiewicz-Jarocka³, Alina T Midro³, Olga Haus⁴

Affiliations

¹ Department of Clinical Genetics, Collegium Medicum, Nicolaus Copernicus University, Sklodowskiej-Curie 9, Bydgoszcz, 85-094 Poland.
² Department of Clinical Genetics, Collegium Medicum, Nicolaus Copernicus University, Sklodowskiej-Curie 9, Bydgoszcz, 85-094 Poland ; West Midlands Regional Genetics Laboratories, Birmingham Women's Hospital NHS Trust, Edgbaston, Birmingham, B15 2TG UK.
³ Department of Genetics, Medical University, Waszyngtona 13, Bialystok, 15-089 Poland.
⁴ Department of Clinical Genetics, Collegium Medicum, Nicolaus Copernicus University, Sklodowskiej-Curie 9, Bydgoszcz, 85-094 Poland ; Department of Hematology, Blood Malignancies and Bone Marrow Transplantation, University of Medicine, Pasteura 4, Wroclaw, 52-367 Poland.

Abstract

Background: Balanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions, stillbirths, congenital malformations in children, and male infertility. BCTs belong to the group of complex chromosome rearrangements (CCRs) - up to date about 260 cases were described.

Results: The described patient and her husband were referred to genetic counseling clinic because of four reproductive failures. GTG-banded chromosome analysis revealed presence of apparently balanced complex translocation t(2;5;13), which was verified and confirmed by molecular cytogenetics with single copy probes. This complex aberration was most likely responsible for reproductive failures in our patient. Since no high resolution molecular karyotyping (microarrays) was used, this rearrangement can only be considered to be balanced at cytogenetic level.

Discussion: Due to small number of reported cases of CCRs/BCTs and individual as well as unique character of such rearrangements, genetic counseling for CCRs carriers is complex and requires detailed pedigree analysis, as well as extended clinical and genetic testing.

Keywords: Balanced complex translocation (BCT); Complex chromosome rearrangement (CCR); Conventional cytogenetics (CC); Fluorescence in situ hybridization (FISH); Reciprocal chromosomal translocation (RCT); Reproductive failure.

Publication types

Case Reports