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Effects of a carrier's sex and age on the segregation patterns of the trivalent of Robertsonian translocations.

ABSTRACT: PURPOSE:To investigate the effects of a carrier's sex and age on the segregation patterns of the trivalent of Robertsonian translocations. METHODS:This retrospective study was designed to analyze the segregation patterns of the trivalent and euploidy rates of blastocysts. Data were collected from 154 couples with Robertsonian translocation (77 with a female carrier and 77 with a male carrier). Embryos were diagnosed via array comparative genomic hybridization between January 2013 and July 2017. The segregation patterns of the trivalent of 604 blastocysts were analyzed according to the carrier's sex and age. RESULTS:The proportion of alternate segregation was significantly higher (82.9% vs. 55.2%) in the male carriers than in the female carriers of Robertsonian translocation, and the proportion of adjacent segregation was significantly lower (16.8% vs. 42.6%), with no difference in 3:0 segregation. The segregation patterns were similar in same-sex carriers when analyzed according to the type of translocation. The carrier's age had no influence on the segregation patterns of the trivalent. CONCLUSIONS:The proportions of the trivalent's meiotic segregation pattern differ significantly according to the carrier's sex in Robertsonian translocations and are independent of the carrier's age. A significantly higher proportion of alternate segregation for normal or balanced chromosome contents was observed in the blastocysts of the male carriers than in those of the female carriers.

SUBMITTER: Zhang L

PROVIDER: S-EPMC6730718 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Effects of a carrier's sex and age on the segregation patterns of the trivalent of Robertsonian translocations.

Zhang Lei L Jiang Wenjie W Zhu Yueting Y Chen Hong H Yan Junhao J Chen Zi-Jiang ZJ

Journal of assisted reproduction and genetics 20190807 9

<h4>Purpose</h4>To investigate the effects of a carrier's sex and age on the segregation patterns of the trivalent of Robertsonian translocations.<h4>Methods</h4>This retrospective study was designed to analyze the segregation patterns of the trivalent and euploidy rates of blastocysts. Data were collected from 154 couples with Robertsonian translocation (77 with a female carrier and 77 with a male carrier). Embryos were diagnosed via array comparative genomic hybridization between January 2013 ...[more]

PMID: 31392661

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Project description:BackgroundRobertsonian translocations are common structural rearrangements and confer an increased genetic reproductive risk due to the formation of trivalent structure during meiosis. Studies on trivalent structure show meiotic heterogeneity between different translocation carriers, although the factors causing heterogeneity have not been well elaborated in blastocysts. It is also not yet known whether interchromosomal effect (ICE) phenomenon occurs in comparison with suitable non-translocation control patients. Herein, we aimed to evaluate the factors that cause meiotic heterogeneity of trivalent structure and the ICE phenomenon.MethodsWe designed a retrospective study, comprising 217 Robertsonian translocation carriers and 134 patients with the risk of transmitting monogenic inherited disorders (RTMIDs) that underwent preimplantation genetic testing (PGT). Data was collected between March 2014 and December 2019. The segregation products of trivalent structure were analyzed based on the carrier's gender, age and translocation type. In addition, to analyze ICE phenomenon, aneuploidy abnormalities of non-translocation chromosomes from Robertsonian translocation carriers were compared with those from patients with RTMIDs.ResultsWe found that the percentage of male carriers with alternate segregation pattern was significantly higher [P < 0.001, odds ratio (OR) = 2.95] than that in female carriers, while the percentage of adjacent segregation pattern was lower (P < 0.001, OR = 0.33). By contrast, no difference was observed between young and older carriers when performing stratified analysis by age. Furthermore, segregation pattern was associated with the D;G chromosomes involved in Robertsonian translocation: the rate of alternate segregation pattern in Rob(13;14) carriers was significantly higher (P = 0.010, OR = 1.74) than that in Rob(14;21) carriers, whereas the rate of adjacent segregation pattern was lower (P = 0.032, OR = 0.63). Moreover, the results revealed that the trivalent structure could significantly increase the frequencies of chromosome aneuploidies 1.30 times in Robertsonian translocation carriers compared with patients with RTMIDs (P = 0.026), especially for the male and young subgroups (P = 0.030, OR = 1.35 and P = 0.012, OR = 1.40), while the mosaic aneuploidy abnormalities presented no statistical difference.ConclusionsOur study demonstrated that meiotic segregation heterogeneity of trivalent structure is associated with the carrier's gender and translocation type, and it is independent of carrier's age. ICE phenomenon exists during meiosis and then increases the frequencies of additional chromosome abnormalities.

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Effects of a carrier's sex and age on the segregation patterns of the trivalent of Robertsonian translocations.

Publications

Effects of a carrier's sex and age on the segregation patterns of the trivalent of Robertsonian translocations.

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