Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns

• DOI: 10.1007/bf00201603
• Publication Date: 2004-08-30T17:36:45Z
• Authors: MichaelV. Zaragoza; PatriciaA. Jacobs; RowenaS. James; Peter Rogan; Stephanie Sherman; Terry Hassold
• Keywords: Adult; Chromosomes, Human, Pair 14; Genetic Markers; Parents; 0301 basic medicine; Chromosomes, Human, Pair 15; Polymorphism, Genetic; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 21; Chromosomes, Human, Pair 22; Infant, Newborn; Trisomy; Middle Aged; Polymerase Chain Reaction; 03 medical and health sciences; Fetus; Nondisjunction, Genetic; Humans

The present report summarizes molecular studies on the parent and meiotic stage of origin of the additional chromosome in 432 fetuses or liveborns with an additional chromosome 13, 14, 15, 21, or 22. Our studies suggest that there is little variation in the origin of nondisjunction among the five acrocentric trisomies and that there is no association between the origin of nondisjunction and the likelihood of survival to term of the trisomic conceptus. The proportion of cases of paternal origin was similar among the five trisomies: 12% for trisomy 13, 17% for trisomy 14, 12% for trisomy 15, 9% for trisomy 21, and 11% for trisomy 22. The stage of nondisjunction was also similar among the five trisomies, with the majority of cases of maternal origin being due to nondisjunction at meiosis I, whereas for paternally derived cases, nondisjunction occurred primarily at meiosis II.