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© 1993 Oxford University Press

RESEARCH-ARTICLE

Non-disjunction in human sperm: results of fluorescence in situ hybridization studies using two and three probes

Briana J. Williams1,{dagger}, Cynthia A. Ballenger1, Henry E. Malter1, Felicia Bishop2, Michael Tucker2, Theresa A. Zwingman3 and Terry J. Hassold1,3,*

1Emory University, Division of Medical Genetics, Department of Pediatrics Atlanta, GA 44106 2Reproductive Biology Associates Atlanta, GA 30342 3Center for Human Genetics, Department of Genetics, Case Western Reserve University Cleveland, OH 44106, USA

To whom correspondence should be addressed at: Case Western Reserve University, Biomedical Research Building 724, 10900 Euclid Avenue, Cleveland, OH 44106-4955, USA

Received June 18, 1993; Revised August 19, 1993; Accepted August 19, 1993

Fluorescence In situ hybridization using two or three probes was utilized to estimate the Incidence of diploldy, the Incidence of disomy for the sex chromosomes and chromosomes 16 and 18, and the proportion of Y- and X-chromosome bearing sperm, in a series of normal males. Our results demonstrate the importance of using an approach capable of distinguishing disomy from dlpioldy, as most donors had levels of dlploldy higher than the disomy levels of individual chromosomes. Our analyses suggest the existence of chromosome-specific mechanisms of paternal non-disjunction, as sex chromosome disomy was approximately 1.5 times as common as disomy 16, and over two times as common as disomy 18. In studies of gametic sex ratio, we found little evidencefor marked deviation from an expected 1:1 ratio.

{dagger}Present address: Departments of Pediatrics and Human Genetics, University of Utah, Salt Lake City, UT 84112, USA


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