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A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21
Human nondisjunction errors in oocytes are the leading cause of pregnancy loss, and for pregnancies that continue to term, the leading cause of intellectual disabilities and birth defects. For the… Expand
Highly polymorphic DNA sequences in the distal region of the long arm of human chromosome 18.
Highly polymorphic repeated DNA sequences were detected at the end of the long arm of human chromosome 18 by a recombinant DNA probe containing 56 bp of human DNA (pERT25). This was shown by… Expand
Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis
The diagnosis of chromosomal mosaicism in the preimplantation and prenatal stage is fraught with uncertainty and multiple factors need to be considered in order to gauge the likely impact. The… Expand