Journal article
Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16
American journal of human genetics, Vol.57(4), pp.867-874
10/1995
Handle:
https://hdl.handle.net/2376/113282
PMCID: PMC1801507
PMID: 7573048
Abstract
Trisomy 16 is the most common human trisomy, occurring in > or = 1% of all clinically recognized pregnancies. It is thought to be completely dependent on maternal age and thus provides a useful model for studying the association of increasing maternal age and nondisjunction. We have been conducting a study to determine the parent and meiotic stage of origin of trisomy 16 and the possible association of nondisjunction and aberrant recombination. In the present report, we summarize our observations on 62 spontaneous abortions with trisomy 16. All trisomies were maternally derived, and in virtually all the error occurred at meiosis I. In studies of genetic recombination, we observed a highly significant reduction in recombination in the trisomy-generating meioses by comparison with normal female meioses. However, most cases of trisomy 16 had at least one detectable crossover between the nondisjoined chromosomes, indicating that it is reduced--and not absent--recombination that is the important predisposing factor. Additionally, our data indicate an altered distribution of crossing-over in trisomy 16, as we rarely observed crossovers in the proximal long and short arms. Thus, it may be that, at least for trisomy 16, the association between maternal age and trisomy is due to diminished recombination, particularly in the proximal regions of the chromosome.
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Details
- Title
- Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16
- Creators
- T Hassold - Department of Genetics, Case Western Reserve University, Cleveland, OH 44106-4955, USAM Merrill - Department of Genetics, Case Western Reserve University, Cleveland, OH 44106-4955, USAK Adkins - Department of Genetics, Case Western Reserve University, Cleveland, OH 44106-4955, USAS Freeman - Department of Genetics, Case Western Reserve University, Cleveland, OH 44106-4955, USAS Sherman - Department of Genetics, Case Western Reserve University, Cleveland, OH 44106-4955, USA
- Publication Details
- American journal of human genetics, Vol.57(4), pp.867-874
- Academic Unit
- Molecular Biosciences, School of
- Identifiers
- 99900547609801842
- Language
- English
- Resource Type
- Journal article