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Human Reproduction Update, Vol.9, No.4 pp.309-317, 2003
© European Society of Human Reproduction and Embryology 2003; all rights reserved

Embryology

Aberrant recombination and the origin of Klinefelter syndrome

N.S. Thomas1,,2 and T.J. Hassold3,,4

1 Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK, 2 Human Genetics, Duthie Building, Southampton General Hospital, Southampton, UK and 3 Department of Genetics, Case Western Reserve University, Cleveland, OH, USA 4 Department of Genetics, Case Western Reserve University10900 Euclid Avenue, Cleveland OH 44106, USA.

To whom correspondence should be addressed at: T.J. Hassold, Department of Genetics, Case Western Reserve University10900 Euclid Avenue, Cleveland OH 44106, USA. e-mail: tjh6{at}po.cwru.edu

Abstract

Trisomy is the most commonly identified chromosome abnormality in humans, occurring in at least 4% of all clinically recognized pregnancies; it is the leading known cause of pregnancy loss and of mental retardation. Over the past decade, molecular studies have demonstrated that most human trisomies originate from errors at maternal meiosis I. However, Klinefelter syndrome is a notable exception, as nearly one-half of all cases derive from paternal non-disjunction. In this review, the data on the origin of sex chromosome trisomies are summarized, focusing on the 47,XXY condition. Additionally, the results of recent genetic mapping studies are reviewed that have led to the identification of the first molecular correlate of autosomal and sex chromosome non-disjunction; i.e. altered levels and positioning of meiotic recombinational events.

Key words: aneuploidy / chromosomal abnormalities / Klinefelter syndrome / meiotic non-disjunction / recombination


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