Summary
Sperm chromosome complements were studied in three men who carried reciprocal translocations. A total of 400 sperm were karyotyped after in vitro penetration of hamster eggs: 217 sperm from t(2;9) (q21;p22), 164 from t(4;6) (q28;p23) and 19 from t(7;14) (q21;q13). All possible 2∶2 and 3∶1 meiotic segregations were observed for t(2;9) and t(4;6); for t(7;14) only 2∶2 segregations were observed. For alternate segregations, the number of normal sperm was not significantly different from the number of sperm carrying a balanced form of the translocation in any of the translocations, as theoretically expected. The percentage of sperm with an unbalanced form of the translocation was 57% for t(2;9), 54% for t(4;6) and 47% for t(7;14). There was no evidence for an interchromosomal effect in any of the translocations since the frequencies of numerical abnormalities (unrelated to the translocation) were within the normal range of control donors. The frequencies of X- and Y-bearing sperm did not differ significantly from 50%. Results from a total of 17 reciprocal translocations studied by sperm chromosomal analysis were reviewed.
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Aurias A, Prieur M, Dutrillaux B, Lejeunc J (1978) Systematic analysis of 95 reciprocal translocations of autosomes. Hum Genet 45:259–282
Balkan W, Martin RH (1983) Chromosome segregation into the spermatozoa of two men heterozygous for different reciprocal translocations. Hum Genet 63:345–348
Boue A, Gallano P (1984) A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnosis. Prenat Diagn 4:45–67
Brandriff B, Gordon L, Ashworth LK, Littman V, Watchmaker G, Carrano AV (1986) Cytogenetics of human sperm: meiotic segregation in two translocation carriers. Am J Hum Genet 38:197
Burns JP, Koduru PRK, Alonso ML, Chaganti RSK (1986) Analysis of meiotic segregation in a man heterozygous for two reciprocal translocations using hamster in vitro penetration system. Am J Hum Genet 38:467–478
Martin RH (1983) A detailed method for obtaining preparations of human sperm chromosomes. Cytogenet Cell Genet 35:253–256
Martin RH (1984) Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation. t(11∶22)(q23;q11). Clin Genet 25:357–361
Martin RH (1988a) Meiotic segregation of human sperm chromosomes in translocation heterozygotes: report of a t(9;10) (q34;q11) and a review of the literature. Cytogenet Cell Genet 47:48–51
Martin RH (1988b) Cytogenetic analysis of sperm from a male heterozygous for a 13∶14 Robertsonian translocation. Hum Genet 80:357–361
Martin RH (1989) Invited editorial: segregation analysis of translocations by the study of human sperm chromosome complements. Am J Hum Genet 44:461–463
Martin RH, Balkan W, Burns K, Rademaker AW, Linn CC, Rudd NL (1983) The chromosome constitution of 1000 human spermatozoa. Hum Genet 63:305–309
Martin RH, Rademaker AW, Hildebrand K, Long-Simpson L, Peterson D, Yamamoto J (1987) Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Hum Genet 77:108–114
Martin RH, McGillivray B, Barclay L, Hildebrand K, Ko E (1990) Sperm chromosome analysis in a man heterozygous for a reciprocal translocation 46. XYt(12;20)(q24.3;q11). Hum Reprod 5:606–609
Pellestor F, Sele B, Jalbert H, Jalbert P (1989) Direct segregation analysis of reciprocal translocations: a study of 283 sperm karyotypes from four carriers. Am J Hum Genet 44:464–473
Rudak E, Jacobs PA, Yanagimachi R (1978) Direct analysis of the chromosome constitution of human spermatozoa. Nature 274:911–913
Templado C, Navarro J, Benet J, Genesca A, Mar Penez M, Egozcue J (1988) Human sperm chromosome studies in a reciprocal translocation t(2;5). Hum Genet 79:24–28
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Martin, R.H., Barclay, L., Hildebrand, K. et al. Cytogenetic analysis of 400 sperm from three translocation heterozygotes. Hum Genet 86, 33–39 (1990). https://doi.org/10.1007/BF00205168
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DOI: https://doi.org/10.1007/BF00205168