Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos
نویسندگان
چکیده
منابع مشابه
Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos.
Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an em...
متن کاملReciprocal Translocation Carrier Diagnosis in Preimplantation Human Embryos
Preimplantation genetic diagnosis (PGD) is widely applied in reciprocal translocation carriers to increase the chance for a successful live birth. However, reciprocal translocation carrier embryos were seldom discriminated from the normal ones mainly due to the technique restriction. Here we established a clinical applicable approach to identify precise breakpoint of reciprocal translocation an...
متن کاملPreimplantation genetic diagnosis of chromosome balance in embryos from a patient with a balanced reciprocal translocation.
Duplications or deletions are present in a high percentage of the gametes produced by individuals carrying balanced translocations. Preimplantation genetic diagnosis was used to examine chromosome balance in embryos from a patient having a reciprocal translocation within the short arms of chromosomes 5 and 8 (46,XX,t(5;8)(p13;p23)). This woman has two sisters with the translocation unbalanced, ...
متن کاملChromosome Segregation Analysis in Human Embryos Obtained from Couples Involving Male Carriers of Reciprocal or Robertsonian Translocation
The objective of this study was to investigate the frequency and type of chromosome segregation patterns in cleavage stage embryos obtained from male carriers of Robertsonian (ROB) and reciprocal (REC) translocations undergoing preimplantation genetic diagnosis (PGD) at our reproductive center. We used FISH to analyze chromosome segregation in 308 day 3 cleavage stage embryos obtained from 26 p...
متن کاملApplication of FISH method for preimplantation genetic diagnostics of reciprocal and Robertsonian translocations.
INTRODUCTION Carriers of reciprocal (RCP) and Robertsonian (RT) translocations are known to be at risk for reproductive difficulties. Preimplantation genetic diagnosis (PGD) is one of the options these carriers have to try to fulfill their desire to have a child. The FISH technique is one of the best method to detect RCPs, and, together with the Next Generation Sequencing, to diagnose RTs. The ...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2017
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.1715053114