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Estop AM, Márquez C, Munné S, et al. An analysis of human sperm chromosome breakpoints. Am J Hum Genet. 1995;56(2):452-60
Estop, A. M., Márquez, C., Munné, S., Navarro, J., Cieply, K., Van Kirk, V., Martorell, M. R., Benet, J., & Templado, C. (1995). An analysis of human sperm chromosome breakpoints. American journal of human genetics, 56(2), 452-60.
Estop, A M, et al. "An analysis of human sperm chromosome breakpoints." American journal of human genetics vol. 56,2 (1995): 452-60.
Estop AM, Márquez C, Munné S, Navarro J, Cieply K, Van Kirk V, Martorell MR, Benet J, Templado C. An analysis of human sperm chromosome breakpoints. Am J Hum Genet. 1995 Feb;56(2):452-60. PMID: 7847382; PMCID: PMC1801134.
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Am J Hum Genet. 1995 Feb;56(2):452-60.

An analysis of human sperm chromosome breakpoints.

American journal of human genetics

A M Estop, C Márquez, S Munné, J Navarro, K Cieply, V Van Kirk, M R Martorell, J Benet, C Templado

Affiliations

  1. Department of Medical Genetics, Western Pennsylvania Hospital, University of Pittsburgh.

PMID: 7847382 PMCID: PMC1801134

Abstract

Sperm chromosome analysis of 19 sperm donors with either normal or balanced karyotypes was carried out in order to explore the nature of sperm chromosome structural aberrations. A total of 2,389 cells (range 36-298/donor) were karyotyped after in vitro penetration of hamster eggs. The median percentage of sperm structural aberrations was 9.3% (SD +/- 4.7; range 0%-17.8%), with a total of 247 breakpoints, of which 220 could be characterized fully. Two sets of donors were studied in two different centers: center 1 (United States) and center 2 (Spain). The frequencies of nonrejoined and rejoined chromosome-type aberrations were very similar between center 1 and center 2: 83.6% and 10.0%, and 75.0% and 10.3%, respectively. Chromatid-type aberrations were more frequent in center 2 (14.7%) than in center 1 (6.4%) (P = .037). Chromosome 4 had less than the expected number of breakpoints (P < .001). A positive significant correlation was found between sperm breakpoints reported in this study and sites of balanced chromosome de novo rearrangements detected at prenatal diagnosis and reported in the literature (P = .0001).

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