PGD in female carriers of balanced Robertsonian and reciprocal translocations by first polar body analysis
نویسندگان
چکیده
منابع مشابه
PGD in female carriers of balanced Robertsonian and reciprocal translocations by first polar body analysis.
Preimplantation genetic diagnosis (PGD) using the first polar body (1PB) is a modality of PGD that can be used when the woman is the carrier of a genetic disease or of a balanced chromosomal reorganization. PGD using 1PB biopsy in carriers of balanced chromosome reorganizations has not become generalized. Here, we describe our experience based on the analysis of unfertilized or fresh, non-insem...
متن کاملPGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization.
BACKGROUND Fluorescence in situ hybridization (FISH) is the most widely used method for detecting unbalanced chromosome rearrangements in preimplantation embryos but it is known to have several technical limitations. We describe the clinical application of a molecular-based assay, array comparative genomic hybridization (array-CGH), to simultaneously screen for unbalanced translocation derivati...
متن کاملParental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations.
De novo cytogenetically balanced reciprocal non-Robertsonian translocations are rare findings in clinical cytogenetics and might be associated with an abnormal phenotype. Knowledge of the parental origin and mechanisms of formation is still limited. By microdissection of the derivative chromosomes and their normal homologs from metaphases followed by microsatellite-mediated marker analysis we i...
متن کاملMale carriers of balanced reciprocal translocations in Northeast China: sperm count, reproductive performance, and genetic counseling.
Balanced chromosomal translocations in men can cause failure of spermatogenesis owing to meiotic impairment. Male carriers may exhibit normozoospermia, although clinical manifestations can include oligozoospermia or azoospermia, oligozoospermia or normozoospermia. Here, we reported the characteristics of balanced reciprocal translocations in men from northeastern China, and explored the relatio...
متن کاملThe Survey of Double Robertsonian Translocation 13q; 14q in the Pedigree of 44; XX Woman: A Case Report
Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with mu...
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ژورنال
عنوان ژورنال: Human Reproduction Update
سال: 2001
ISSN: 1355-4786,1460-2369
DOI: 10.1093/humupd/7.6.591