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Nondisjunction — A View from Ringside

2004; Massachusetts Medical Society; Volume: 351; Issue: 19 Linguagem: Inglês

10.1056/nejmp048118

1533-4406

Neil E. Lamb, Terry Hassold,

Genomic variations and chromosomal abnormalities

Chromosome nondisjunction lands a heavy blow on the chin of humanity. The improper segregation of chromosomes during meiosis leads to chromosomally unbalanced eggs or sperm. If these gametes participate in fertilization, the outcome is an aneuploid embryo, with either trisomy (one chromosome too many) or monosomy (one chromosome too few). Since most such embryos are inviable, one might expect that these errors would be extremely rare. This is true for most organisms, but our own species is a notable exception: aneuploidy is identified in at least 5 percent of all clinically recognized pregnancies, making it the leading known cause of . . .