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Updated: Dec 23, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
[Prenatal diagnosis of genetic disorders by linkage analysis (author's transl)]
Abstract:
Most of the well-known monogenic disorders to date cannot be diagnosed prenatally. In principle, this problem can be overcome indirectly if the gene in question is linked to a cytogenetic, biochemical, or molecular polymorphism. In this respect, the last-mentioned will gain increasing importance in prenatal diagnosis in the near future. The problems of such linkage studies in X-linked, autosomal dominant, and recessive disorders are discussed. Prenatal diagnosis, monogenic disorders, linkage group analysis, chromosomal polymorphisms, DNA-sequence polymorphisms.
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