Summary
Cytogenetic analysis of 121 sperm from a man heterozygous for a t(13;14) Robertsonian translocation was performed using the technique of in vitro penetration of hamster eggs. The frequency of sperm that were chromosomally unbalanced with respect to the translocation was 27%. The frequency of chromosomally normal (36%) and balanced (38%) complements was approximately equal, as theoretically expected. There was no evidence for an interchromosomal effect since the frequency of numerical chromosomal abnormalities (2.5%) and structural chromosomal abnormalities (10.7%) — both unrelated to the translocation — were within the normal range of control donors. The ratio of X-and Y-chromosome bearing sperm was equal, and there was no evidence for preferential segregation of the X chromosome with the translocation.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Aurias A, Prieur M, Dutrillaux B, Lejeune J (1978) Systematic analysis of 95 reciprocal translocations of autosomes. Hum Genet 45: 259–282
Balkan W, Martin RH (1983a) Segregation of chromosomes into the spermatozoa of a man heterozygous for a 14;21 Robertsonian translocation. Am J Med Genet 16:169–172
Balkan W, Martin RH (1983b) Chromosome segregation into the spermatozoa of two men heterozygous for different reciprocal translocations. Hum Genet 63:345–348
Biggers JD, Whitten WK, Whittingham DG (1971) The culture of mouse embryos in vitro. In: Daniel JC (ed) Methods in mammalian embryology. Freeman, San Francisco, pp 86–116
Bolanos JR, Overstreet JW, Katz DF (1983) Human sperm penetration of zona-free hamster eggs after storage of semen for 48 hours at 2°C to 5°C. Fertil Steril 39:536–541
Boué A, Gallano P (1984) Collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn 4:45–67
Brandriff B, Gordon L, Watchmaker G (1985) Human sperm chromosomes obtained from hamster eggs after sperm capacitation in TEST-yolk buffer. Gamete Res 11:253–259
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 the hamster in vitro penetration system. Am J Hum Genet 38:954–964
Daniel A, Williams K, Lam-Po-Tang PRLC (1980) Higher risk to D; G-translocation carriers of t dic(13;21) as compared to t dic(14;21). J Med Genet 17:491–492
Dutrillaux B, Lejeune J (1970) Etude de la descendance des individus porteurs d'une translocation t(Dq:Dq). Ann Génét (Paris) 13: 11–18
Epstein J, Travis B (1979) Preimplanatation lethality of monosomy for mouse chromosome 19. Nature 280:144–145
Evans JA, Canning N, Hunter AGW, Martslof JT, Ray M, Thompson DR, Hamerton JL (1978) A cytogenetic survey of 14,069 newborn infants. III. An analysis of the significance and cytologic behaviour of the Robertsonian and reciprocal translocations. Cytogenet Cell Genet 20:96–123
Grell RF (1967) Pairing at the chromosome level. J Cell Physiol 70: 119–146
Hamerton JL (1970) Robertsonian translocations: evidence on segregation from family studies. In: Jacobs PA, Price WH, Law P (eds) Human population cytogenetics. Edinburgh University Press, Edinburgh, pp 63–80
Luciani JM, Guichaoua MR, Mattei A, Morazzani MR (1984) Pachytene analysis of a man with a 13q;14q translocation and infertility. Cytogenet Cell Genet 38:14–22
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 segreagtion 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) Abnormal spermatozoa in human translocation and inversion carriers. In: Daniel A (ed) The cytogenetics of mammalian autosomal rearrangements. Liss, New York, pp 397–418
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, Hildebrand K, Balkan N, Long-Simpson L, Barclay L, Ko E (1988) Proceedings of the 16th International Congress on Genetics, Toronto 1988. Genome [Suppl 1] 30:252
Okawa K, Trent M, Lebovitz R (1977) Familial balanced translocation 4p+/17q-as a suggested cause of primary trisomy 21 Down syndrome. Arch Dis Child 52:890–893
Pellestor F, Sele B, Jalbert H (1987) Chromosome analysis of spermatozoa from a male heterozygous for a 13;14 Robertsonian translocation. Hum Genet 76:116–120
Redi CA, Garagna S, Pellicciari C, Manfredi Romanini MG, Capanna E, Winking H, Gropp A (1984) Spermatozoa of chromosomally heterozygous mice and their fate in male and female genital tracts. Gamete Res 9:273–286
Rosenmann, A, Wahrman J, Richler C, Voss R, Persitz A, Goldman B (1985) Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility. Cytogenet Cell Genet 39:19–29
Sonta S, Fukui K, Yamamura H (1984) Selective elimination of chromosomally imbalanced zygotes at the two cell stage in the Chinese hamster. Cytogenet Cell Genet 38:5–13
Tarkowski AK (1966) An air drying method for chromosome preparation from mouse eggs. Cytogenetics 5:394–400
Templado C, Navarro J, Benet J, Perez MM, Genesca A, Egozcue J (1986) Human sperm chromosome studies in a reciprocal t(2;5). 7th International Congress of Human Genetics, Berlin 1986, pp 147–148
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Martin, R.H. Cytogenetic analysis of sperm from a male heterozygous for a 13;14 Robertsonian translocation. Hum Genet 80, 357–361 (1988). https://doi.org/10.1007/BF00273651
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00273651