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filingDate 2021-11-01-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_4dbba0a3016f74fdef9c67feadd81c3d
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publicationDate 2022-05-13-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-114480611-A
titleOfInvention A method to distinguish diseased embryos from normal embryos with CNV microdeletion microduplication syndrome
abstract The present invention relates to a method for identifying diseased embryos and normal embryos of CNV microdeletion and microduplication syndrome. The present invention belongs to the field of genetic diagnosis and human assisted reproduction, and more particularly, relates to preimplantation detection technology (PGT). According to the method of the present invention, the chromosomes of a patient with copy number variation (CNV) microdeletion-microduplication syndrome and their spouse, embryos after in vitro fertilization and a relative of the patient or fetal tissue with CNV microdeletion-microduplication syndrome are performed. Family haplotype linkage analysis can quickly, easily and accurately distinguish between embryos with CNV disease and normal embryos, and at the same time screen the embryos for chromosomal aneuploidy, improve the clinical pregnancy rate, and realize embryo transfer Early detection of diseased embryos, transfer of non-diseased embryos, prevention of the birth of defective children, and timely blocking of the genetic transmission of CNV microdeletion and microduplication syndrome disease to the next generation. To a certain extent, it has promoted the development and progress of human assisted reproductive technology.
priorityDate 2021-11-01-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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