Distribution of aneuploidy in human gametes: comparison between human sperm and oocytes.

作者: Renée H. Martin , Evelyn Ko , Alfred Rademaker

DOI: 10.1002/AJMG.1320390315

关键词: GeneticsAneuploidyCytogeneticsY chromosomeKaryotypePloidySpermNondisjunctionChromosome 21Biology

摘要: The frequency and distribution of aneuploidy was compared in 11,615 karyotyped human sperm 772 oocytes to determine if all chromosomes are equally likely be involved aneuploid events or some particularly susceptible nondisjunction. hypohaploidy hyperhaploidy among different chromosome groups individual for oocytes. In general, hypohaploid complements were more frequent than hyperhaploid complements, loss the indicated that significantly fewer large small lost, suggesting technical predominantly affects chromosomes. A conservative estimate (2 X hyperhaploidy) approximately 3-4% 18-19% All represented For sperm, observed equaled expected based on assumption nondisjunction is equal groups, with two exceptions: group G sex Among 1 21 had a significant excess hyperhaploidy. oocytes, there C F D G. 21. These results indicate but prone both They also demonstrate common not

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