Chromosomal translocations and semen quality: A study on 144 male translocation carriers.
Sign Up to like & getrecommendations! Published in 2019 at "Reproductive biomedicine online"
DOI: 10.1016/j.rbmo.2018.10.003
Abstract: RESEARCH QUESTION Chromosomal translocations are known genetic causes of male infertility. Are certain translocations or chromosomal regions more directly associated with sperm defects? Is there a threshold of sperm impairment that can be relevant for… read more here.
Keywords: semen quality; chromosomal translocations; nps asp; study ... See more keywords
Impact of carriers' sex on the segregation patterns of the quadrivalent structures and chromosome stability of reciprocal translocations
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DOI: 10.1016/j.rbmo.2021.08.017
Abstract: ABSTRACT Research question : Does the sex of reciprocal translocation carriers affect meiotic segregation patterns and stability of non-translocated chromosomes during meiosis? Design : A total of 790 couples who underwent preimplantation genetic testing for… read more here.
Keywords: translocation carriers; segregation; stability; segregation patterns ... See more keywords
P–525 Analysis of segregation patterns of trivalent structure and the effect on genome stability in Robertsonian translocation carriers
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DOI: 10.1093/humrep/deab130.524
Abstract: What are the factors that affect the separation pattern of Robertsonian translocation trivalent, and whether the structure of the trivalent affected the chromosome stability? The meiotic segregation modes can be affected by the carrier’s sex… read more here.
Keywords: translocation carriers; translocation; robertsonian translocation; structure ... See more keywords
Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go?
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DOI: 10.1111/aogs.14256
Abstract: The presence of an unbalanced familial translocation can be reliably assessed in the cytotrophoblast of chorionic villi. However, carriers of a balanced translocation often decline invasive testing. This study aimed to investigate whether an unbalanced… read more here.
Keywords: invasive prenatal; prenatal diagnosis; translocation carriers; non invasive ... See more keywords
The Effectiveness of Next-Generation Sequencing-Based Preimplantation Genetic Testing for Balanced Translocation Couples
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DOI: 10.1159/000512847
Abstract: The purpose of this study was to evaluate the effectiveness of next-generation sequencing (NGS)-based preimplantation genetic testing (PGT) for balanced translocation carriers to identify normal/balanced blastocysts and to measure pregnancy outcomes following euploid embryo transfer.… read more here.
Keywords: pregnancy; balanced translocation; translocation carriers; translocation ... See more keywords
BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genomics"
DOI: 10.1186/s12920-019-0495-6
Abstract: BackgroundPreimplantation genetic testing (PGT) has already been applied in chromosomally balanced translocation carriers to improve the clinical outcome of assisted reproduction. However, traditional methods could not further distinguish embryos carrying a translocation from those with… read more here.
Keywords: balanced translocation; asa; translocation carriers; translocation ... See more keywords
Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-019-0444-2
Abstract: BackgroundBalanced translocation carriers are burdened with fertility issues due to improper chromosome segregation in gametes, resulting in either implantation failure, miscarriage or birth of a child with chromosomal disorders. At the same time, these individuals… read more here.
Keywords: detection balanced; balanced translocation; case; translocation carriers ... See more keywords