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

• Published in: Molecular cytogenetics Vol. 7; no. 1; p. 83
• Main Authors: Lazarczyk, Ewelina, Drozniewska, Malgorzata, Pasinska, Magdalena, Stasiewicz-Jarocka, Beata, Midro, Alina T, Haus, Olga
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 19-11-2014; BioMed Central
• Subjects: Analysis; Case Report; Chromosomes; Genetic screening; Psychiatric services; Fluorescence in situ hybridization (FISH); Balanced complex translocation (BCT); Reproductive failure; Complex chromosome rearrangement (CCR); Conventional cytogenetics (CC); Reciprocal chromosomal translocation (RCT)
• ISSN: 1755-8166; 1755-8166
• DOI: 10.1186/s13039-014-0083-6

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.
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.
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.