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Hereditary Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements

Abstract

Rooth Vasantha Medapati

There is a high rate of chromosomal irregularities in early human undeveloped organisms, whether they are produced by normal origination or by assisted reproductive technologies (ART). Cells with chromosomal duplicate number deviations or chromosome primary modifications can think twice about practicality of undeveloped organisms; a large part of the normally low human fruitfulness as well as low achievement paces of ART can be credited to these cytogenetic deformities. Chromosomal inconsistencies are likewise answerable for an enormous extent of unsuccessful labors and inborn problems. There is consequently enormous worth in strategies that distinguish undeveloped organisms containing chromosomal irregularities before intrauterine exchange to a patient being treated for barrenness - the objective being the rejection of impacted undeveloped organisms to work on clinical results. This is the reasoning behind preimplantation genetic testing for aneuploidy (PGT-A) and primary modifications (-SR). Contemporary strategies are prepared to do substantially more than recognizing entire chromosome anomalies (e.g., monosomy/trisomy). Specialized improvements and expanded goal and responsiveness grant the recognizable proof of chromosomal mosaicism (undeveloped organisms containing a blend of ordinary and unusual cells), as well as the discovery of sub-chromosomal irregularities like segmental erasures and duplications. Prior ways to deal with evaluating for chromosomal irregularities yielded a paired consequence of typical versus unusual, however the new refinements in the framework call for new classes, each with explicit clinical results and subtleties for clinical administration. This survey expects to give an outline of PGT-An and -SR, stressing ongoing advances and areas of dynamic turn of events.

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