title: Meiotic segregation patterns and ICSI pregnancy outcome of a rare (13;21) Robertsonian translocation carrier: a case report.
abstract: t(13;21) is an uncommon Robertsonian translocation (RT) with limited information in the literature. Hereby, we assessed the meiotic segregation and interchromosomal effect (ICE) in sperm nuclei from a t(13;21) carrier. The pregnancy outcome following ICSI was also included as reference for physicians and patients. Dual-colour fluorescent in situ hybridization (FISH) was carried out to analyse the segregation pattern of chromosomes 13 and 21, while triple-colour FISH was used to investigate the possible concurrence of ICE. With respect to chromosomal constitutions of 13 and 21, 88.39% of the spermatozoa were normal or balanced due to alternative segregations, and 11.08% showed nullisomy or disomy as a result of adjacent segregations. However, for chromosome 18 and sex chromosomes, the proportion of normal haploids was 98.79%. The rate of disomy was not significantly higher than the controls for either chromosome 18 or X/Y. The rare t(13;21) case exhibited a similar pattern of meiotic segregation as in the common RTs. ICEs were not observed in the current case.
authors.affiliation: Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: C
authors.initials: C
authors.lastname: Hatakeyama
authors.forename: H
authors.initials: H
authors.lastname: Gao
authors.forename: K
authors.initials: K
authors.lastname: Harmer
authors.forename: S
authors.initials: S
authors.lastname: Ma
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics; D000328:Adult; D020090:Chromosome Segregation; D002882:Chromosomes, Human, Pair 13; D002891:Chromosomes, Human, Pair 21; D005260:Female; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008540:Meiosis; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000235:genetics*; D020554:Sperm Injections, Intracytoplasmic; D013094:Spermatozoa / Q000648:ultrastructure; D014178:Translocation, Genetic