View More View Less
  • 1 National Research Institute of Animal Production Department of Immuno- and Cytogenetics Krakowska 1 32-083 Balice/Kraków Poland
  • 2 Swiss Federal Institute of Technology Zurich Department of Animal Science Zurich Switzerland
  • 3 Vetsuisse Faculty University of Zurich Department of Veterinary Medicine Zurich Switzerland
Restricted access

Purchase article

USD  $25.00

1 year subscription (Individual Only)

USD  $836.00

Fluorescent in situ hybridisation (FISH) using a panel of molecular probes for all chromosome pairs obtained by chromosome microdissection of the domestic horse ( Equus caballus ) was used to diagnose karyotype abnormalities in 35 horses (32 mares, 2 stallions and 1 intersex), which were selected for the study due to infertility (23 horses), reduced fertility (10 horses) and developmental anomalies (2 horses). The use of the FISH technique with probes for each horse chromosome pair enabled the diagnosis of many different chromosome aberrations in this population. Among the horses analysed, 21 animals had normal karyotype — 64,XX (19 mares) and 64,XY (2 stallions). Fourteen animals, constituting 40% of the population studied, showed the following chromosome abnormalities: 63,X (1 mare); 63,X/64,XX (6 mares); 63,X/64,XX/65,XXX (3 mares); 63,X/65,XXX (1 mare); 64,XX/65,XX+Xp (1 mare); 63,X/64,XX/65,XX+Xq (1 mare), and 63,X/64,XX/65,XX+delY (1 intersex). When only the mares studied because of complete infertility were taken into consideration, this proportion exceeded 56%. Due to the increased frequency of the above-mentioned aberrations in the mosaic form of two or more lines, it was necessary to analyse a large number (100–300) of metaphase spreads. The use of specific molecular probes obtained by chromosome microdissection made these diagnoses much easier.

  • Abe, S., Miyake, Y. I., Kageyama, S. I., Watanabe, G., Taya, K. and Kawakura, K. (1999): Deletion of the Sry region on the Y chromosome detected in case of equine gonadal hypoplasia (XY female) with abnormal hormonal profiles. Equine Vet. J. 31 , 336–338.

    Kawakura K. , 'Deletion of the Sry region on the Y chromosome detected in case of equine gonadal hypoplasia (XY female) with abnormal hormonal profiles ' (1999 ) 31 Equine Vet. J. : 336 -338.

    • Search Google Scholar
  • Bowling, A. T. and Millon, L. V. (1990): Two autosomal trisomies in the horse: 64,XX,-26,+(26q26q) and 65,XX,+30. Genome 33 , 679–682.

    Millon L. V. , 'Two autosomal trisomies in the horse: 64,XX,-26,+(26q26q) and 65,XX,+30 ' (1990 ) 33 Genome : 679 -682.

    • Search Google Scholar
  • Bowling, A. T., Millon, L. and Hughes, J. P. (1987): An update of chromosomal abnormalities in mares. J. Reprod. Fertil., Suppl. 35 , 149–155.

    Hughes J. P. , 'An update of chromosomal abnormalities in mares ' (1987 ) 35 J. Reprod. Fertil., Suppl. : 149 -155.

    • Search Google Scholar
  • Breen, M., Langford, C. F., Carter, N. P., Fischer, P. E., Marti, E., Gerstenberg, C., Allen, W. R., Lear, T. L. and Binns, M. M. (1997): Detection of equine X chromosome abnormalities in equids using a horse X whole chromosome paint probe (WCPP). Vet. J. 153 , 235–238.

    Binns M. M. , 'Detection of equine X chromosome abnormalities in equids using a horse X whole chromosome paint probe (WCPP) ' (1997 ) 153 Vet. J. : 235 -238.

    • Search Google Scholar
  • Bugno, M. and Słota, E. (2007): Application of arm-specific painting probes of horse X chromosome for karyotype analysis in an infertile Hutsul mare with 64,XX/65,XX+Xp karyotype: Case report. Acta Vet. Hung. 55 , 309–314.

    Słota E. , 'Application of arm-specific painting probes of horse X chromosome for karyotype analysis in an infertile Hutsul mare with 64,XX/65,XX+Xp karyotype: Case report ' (2007 ) 55 Acta Vet. Hung. : 309 -314.

    • Search Google Scholar
  • Bugno, M., Klukowska, J., Słota, E., Tischner, M. and Świtoński, M. (2003 b ): A sporadic case of the sex-reversed mare (64,XY; SRY-negative): molecular and cytogenetic studies of the Y chromosome. Theriogenology 59 , 1597–1603.

    Świtoński M. , 'A sporadic case of the sex-reversed mare (64,XY; SRY-negative): molecular and cytogenetic studies of the Y chromosome ' (2003 ) 59 Theriogenology : 1597 -1603.

    • Search Google Scholar
  • Bugno, M., Pieńkowska-Schelling, A., Schelling, C., Włodarczyk, N and Słota, E. (2006): Utilization of the probe generated by chromosome microdissection, for detection of equine X chromosome aneuploidy. Ann. Anim. Sci. 6 , 205–210.

    Słota E. , 'Utilization of the probe generated by chromosome microdissection, for detection of equine X chromosome aneuploidy ' (2006 ) 6 Ann. Anim. Sci. : 205 -210.

    • Search Google Scholar
  • Bugno, M., Słota, E. and Kościelny, M. (2007 a ): Karyotype evaluation among young horse populations in Poland. Schweiz. Arch. Tierheilk. 149 , 227–232.

    Kościelny M. , 'Karyotype evaluation among young horse populations in Poland ' (2007 ) 149 Schweiz. Arch. Tierheilk. : 227 -232.

    • Search Google Scholar
  • Bugno, M., Słota, E., Pieńkowska-Schelling, A and Schelling, C. (2005): An effective method to diagnose X chromosome aneuploidy — the most frequent aberration in the horse. Rocz. Nauk. Zoot. 32 , 11–17.

    Schelling C. , 'An effective method to diagnose X chromosome aneuploidy — the most frequent aberration in the horse ' (2005 ) 32 Rocz. Nauk. Zoot. : 11 -17.

    • Search Google Scholar
  • Bugno, M., Słota, E., Pieńkowska-Schelling, A and Schelling, C. (2007 b ): Detection of equine X chromosome mosaicism in a mare using an equine X Whole Chromosome Painting Probe (WCPP) — A case report. Acta Vet. Hung. 55 , 207–212.

    Schelling C. , 'Detection of equine X chromosome mosaicism in a mare using an equine X Whole Chromosome Painting Probe (WCPP) — A case report ' (2007 ) 55 Acta Vet. Hung. : 207 -212.

    • Search Google Scholar
  • Bugno, M., Słota, E., Tischner, M. and Kozubska-Sobocińska, A. (1999): A case of 64,XX/64,XY leukocytic chimerism in a fertile mare of the Wielkopolska breed. Ann. Anim. Sci. 26 , 9–16.

    Kozubska-Sobocińska A. , 'A case of 64,XX/64,XY leukocytic chimerism in a fertile mare of the Wielkopolska breed ' (1999 ) 26 Ann. Anim. Sci. : 9 -16.

    • Search Google Scholar
  • Bugno, M., Słota, E., Wieczorek, M., Yang, F., Buczyński, J and Świtoński, M. (2003 a ): Nonmosaic X trisomy, detected by chromosome painting, in an infertile mare. Equine Vet. J. 35 , 209–210

    Świtoński M. , 'Nonmosaic X trisomy, detected by chromosome painting, in an infertile mare ' (2003 ) 35 Equine Vet. J. : 209 -210.

    • Search Google Scholar
  • Bugno, M., Słota, E. and Ząbek, T. (2001): Two cases of subfertile mares with 64,XX/63,X mosaic karyotype. Ann. Anim. Sci. 1 , 7–11.

    Ząbek T. , 'Two cases of subfertile mares with 64,XX/63,X mosaic karyotype ' (2001 ) 1 Ann. Anim. Sci. : 7 -11.

    • Search Google Scholar
  • Bugno, M., Ząbek, T., Golonka, P., Pieńkowska-Schelling, A., Schelling, C and Słota, E. (2008): A case of an intersex horse with 63,X/64,XX/65,XX, del(Y)(q?) karyotype. Cytogenet. Genome Res. 120 , 123–127.

    Słota E. , 'A case of an intersex horse with 63,X/64,XX/65,XX, del(Y)(q?) karyotype ' (2008 ) 120 Cytogenet. Genome Res. : 123 -127.

    • Search Google Scholar
  • Buoen, L. C., Kent, M. G., Madi, J. and Weber, A. F. (1983): Variety of cytogenetic anomalies encountered during a two year period in a veterinary cytogenetics laboratory. 3rd North Am. Symp. Cytogenet. Cell Biol. Domest. Anim., Abstracts, p. 246.

  • Buoen, L. C., Zhang, T. Q., Weber, A. F., Turner, T., Bellamy, J. and Ruth, G. R. (1997): Arthrogryposis in the foal and its possible relation to autosomal trisomy. Equine Vet. J. 29 , 60–62.

    Ruth G. R. , 'Arthrogryposis in the foal and its possible relation to autosomal trisomy ' (1997 ) 29 Equine Vet. J. : 60 -62.

    • Search Google Scholar
  • Chandley, A. C., Fletcher, J., Rossdale, P. D., Peace, C. K., Ricketts, S. W., McEnery, R. J., Thorne, J. P., Short, R. V. and Allen, W. R. (1975): Chromosome abnormalities as a cause of infertility in mares. J. Reprod. Fert. Suppl. 23 , 377–383.

    Allen W. R. , 'Chromosome abnormalities as a cause of infertility in mares ' (1975 ) 23 J. Reprod. Fert. Suppl. : 377 -383.

    • Search Google Scholar
  • Dunn, H. O., Smiley, D., Duncan, J. R. and McEntee, K. (1981): Two equine true hermaphrodites with 64,XX/64,XY and 63,X0/64,XY chimerism. Cornell Vet. 71 , 123–135.

    McEntee K. , 'Two equine true hermaphrodites with 64,XX/64,XY and 63,X0/64,XY chimerism ' (1981 ) 71 Cornell Vet. : 123 -135.

    • Search Google Scholar
  • Halnan, C. R. E. (1985): Sex chromosome mosaicism and infertility in mares. Vet. Rec. 116 , 542–543.

    Halnan C. R. E. , 'Sex chromosome mosaicism and infertility in mares ' (1985 ) 116 Vet. Rec. : 542 -543.

    • Search Google Scholar
  • Halnan, C. R. E., Watson, J. I. and Pryde, L. C. (1982): Detection by G- and C-band karyotyping of gonosome anomalies in horses of different breeds. J. Reprod. Fertil., Suppl. 32 , 627–628.

    Pryde L. C. , 'Detection by G- and C-band karyotyping of gonosome anomalies in horses of different breeds ' (1982 ) 32 J. Reprod. Fertil., Suppl. : 627 -628.

    • Search Google Scholar
  • Herzog, A., Hohn, H. and Hecht, W. C. (1988): A 63,X0/64,XYY t(Y;Y) mosaic in a foal. Proc. of the 8th Eur. Colloq. Cytogenet. Domest. Anim., Bristol, pp. 60–65.

  • ISCNH (1997): International System for Cytogenetic Nomenclature of the Domestic Horse. Bowling, A. T., Breen, M., Chowdhary, B. P., Hirota, K., Lear, T. L., Millon, L. V., Ponce de Leon, F. A., Raudsepp, T. and Stranzinger, G. (Committee). Chromosome Res. 5 , 433–453.

    'International System for Cytogenetic Nomenclature of the Domestic Horse. Bowling, A. T., Breen, M., Chowdhary, B. P., Hirota, K., Lear, T. L., Millon, L. V., Ponce de Leon, F. A., Raudsepp, T. and Stranzinger, G. (Committee) ' (1997 ) 5 Chromosome Res. : 433 -453.

    • Search Google Scholar
  • Jaszczak, K. and Parada, R. (1999): Cytogenetic examination of horses from heterosexual twins. Anim. Sci. Pap. Rep. 17 , 115–121.

    Parada R. , 'Cytogenetic examination of horses from heterosexual twins ' (1999 ) 17 Anim. Sci. Pap. Rep. : 115 -121.

    • Search Google Scholar
  • Kent, M. G. (1989): Fertility among XY sex reversed mares. 6th North Am. Colloq. Domest. Anim. Cytogenet., Purdue, Abstracts, p. 16.

  • Kent, M. G., Shoffner, R. N., Buoen, L. and Weber, A. F. (1986): XY sex-reversal syndrome in the domestic horse. Cytogenet. Cell Genet. 42 , 8–18.

    Weber A. F. , 'XY sex-reversal syndrome in the domestic horse ' (1986 ) 42 Cytogenet. Cell Genet. : 8 -18.

    • Search Google Scholar
  • Klunder, L. R., McFeely, R. A., Beech, J., McClune, W. and Biliński, W. F. (1989): Autosomal trisomy in a Standardbred colt. Equine Vet. J. 22 , 219–220.

    Biliński W. F. , 'Autosomal trisomy in a Standardbred colt ' (1989 ) 22 Equine Vet. J. : 219 -220.

    • Search Google Scholar
  • Kubień, E and Tischner, M. (2002): Reproductive success of a mare 64,XX/65,XX,+31. Equine Vet. J. 34 , 207–209.

    Tischner M. , 'Reproductive success of a mare 64,XX/65,XX,+31 ' (2002 ) 34 Equine Vet. J. : 207 -209.

    • Search Google Scholar
  • Lear, T. L. and Bailey, E. (2008): Equine clinical cytogenetics: the past and future. Cytogenet. Genome Res. 120 , 42–49.

    Bailey E. , 'Equine clinical cytogenetics: the past and future ' (2008 ) 120 Cytogenet. Genome Res. : 42 -49.

    • Search Google Scholar
  • Lear, T. L. and Layton, G. (2002): Use of Zoo-FISH to characterize a reciprocal translocation in a Thoroughbred mare: t(1;16)(q16;q21.3). Equine Vet. J. 34 , 207–209.

    Layton G. , 'Use of Zoo-FISH to characterize a reciprocal translocation in a Thoroughbred mare: t(1;16)(q16;q21 ' (2002 ) 34 Equine Vet. J. : 207 -209.

    • Search Google Scholar
  • Lear, T. L., Cox, J. H. and Kennedy, G. A. (1999): Autosomal trisomy in a Thoroughbred colt: 65,XY+31. Equine Vet. J. 31 , 85–88.

    Kennedy G. A. , 'Autosomal trisomy in a Thoroughbred colt: 65,XY+31 ' (1999 ) 31 Equine Vet. J. : 85 -88.

    • Search Google Scholar
  • Lear, T. L., Lundquist, J., Zent, W. W., Fishback, W. D. and Clark, A. (2008): Three autosomal chromosome translocations associated with repeated early embryonic loss (REEL) in the domestic horse ( Equus caballus ). Cytogenet. Genome Res. 120 , 117–122.

    Clark A. , 'Three autosomal chromosome translocations associated with repeated early embryonic loss (REEL) in the domestic horse (Equus caballus) ' (2008 ) 120 Cytogenet. Genome Res. : 117 -122.

    • Search Google Scholar
  • Long, S. E. (1996): Tandem 1;30 translocation: a new structural abnormality in the horse (Equus caballus ). Cytogenet. Cell Genet. 72 , 162–163.

    Long S. E. , 'Tandem 1;30 translocation: a new structural abnormality in the horse (Equus caballus) ' (1996 ) 72 Cytogenet. Cell Genet. : 162 -163.

    • Search Google Scholar
  • Mäkelä, O., Gustavsson, I. and Holmén, T. (1994): A 64,X,i(Xq) karyotype in a Standardbred filly. Equine Vet. J. 26 , 251–254.

    Holmén T. , 'A 64,X,i(Xq) karyotype in a Standardbred filly ' (1994 ) 26 Equine Vet. J. : 251 -254.

    • Search Google Scholar
  • Mäkinen, A., Hasegawa, T., Makila, M. and Katila, T. (1999): Infertility in two mares with XY and XXX sex chromosomes. Equine Vet. J. 31 , 346–349.

    Katila T. , 'Infertility in two mares with XY and XXX sex chromosomes ' (1999 ) 31 Equine Vet. J. : 346 -349.

    • Search Google Scholar
  • McFeely, R. A., Klunder, L. R. and Byars, D. (1989): Equine infertility associated with autosomal mixoploidy. Proc. 6th North Am. Colloq. Domestic Animal Cytogenet., Purdue, p. 7.

  • Pailhoux, E., Cribiu, E. P., Parma, P. and Cotinot, C. (1995): Molecular analysis of an XY mare with gonadal dysgenesis. Hereditas 122 , 109–112.

    Cotinot C. , 'Molecular analysis of an XY mare with gonadal dysgenesis ' (1995 ) 122 Hereditas : 109 -112.

    • Search Google Scholar
  • Payne, H. W., Ellsworth, K. and DeGroot, A. (1968): Aneuploidy in an infertile mare. J. Am. Vet. Med. Assoc. 153 , 1293–1299.

    DeGroot A. , 'Aneuploidy in an infertile mare ' (1968 ) 153 J. Am. Vet. Med. Assoc. : 1293 -1299.

    • Search Google Scholar
  • Power, M. M. (1987): Equine half sibs with an unbalanced X;15 translocation or trisomy 28. Cytogenet. Cell Genet. 45 , 163–168.

    Power M. M. , 'Equine half sibs with an unbalanced X;15 translocation or trisomy 28 ' (1987 ) 45 Cytogenet. Cell Genet. : 163 -168.

    • Search Google Scholar
  • Power, M. M. (1990): Chromosomes of the horse. Adv. Vet. Sci. Comp. Med. 34 , 131–167.

    Power M. M. , 'Chromosomes of the horse ' (1990 ) 34 Adv. Vet. Sci. Comp. Med. : 131 -167.

  • Power, M. M. (1991): The first description of a balanced reciprocal translocation [t(1q;3q)] and its clinical effects in a mare. Equine Vet. J. 23 , 146–149.

    Power M. M. , 'The first description of a balanced reciprocal translocation [t(1q;3q)] and its clinical effects in a mare ' (1991 ) 23 Equine Vet. J. : 146 -149.

    • Search Google Scholar
  • Queinnec, G., Berland, H. M., Darre, R. and Carlotti, D. (1975): Anomalie chromosomique chez un cheval. Rev. Med. Vet. 38 , 323–327.

    Carlotti D. , 'Anomalie chromosomique chez un cheval ' (1975 ) 38 Rev. Med. Vet. : 323 -327.

  • Sharp, A. J., Wachtel, S. S. and Benirschke, K. (1980): H-Y antigen in a fertile XY female horse. J. Reprod. Fertil. 58 , 157–160.

    Benirschke K. , 'H-Y antigen in a fertile XY female horse ' (1980 ) 58 J. Reprod. Fertil. : 157 -160.

    • Search Google Scholar
  • Sumner, A. T. (1972): A simple technique for demonstrating centromeric heterochromatin. Exp. Cell. Res. 75 , 303–306.

    Sumner A. T. , 'A simple technique for demonstrating centromeric heterochromatin ' (1972 ) 75 Exp. Cell. Res. : 303 -306.

    • Search Google Scholar
  • Świtoński, M and Stranzinger, G. (1998): Studies of synaptonemal complex in farm animals: A review. J. Hered. 89 , 473–480.

    Stranzinger G. , 'Studies of synaptonemal complex in farm animals: A review ' (1998 ) 89 J. Hered. : 473 -480.

    • Search Google Scholar
  • Telenius, H., Pelmear, A., Tunnacliffe, A., Carter, N. P., Behmel, A. and Ferguson-Smith, M. A. (1992): Cytogenetic analysis by chromosome painting using DOP-PCR amplified flowsorted chromosomes. Gen. Chrom. Cancer 4 , 257–263.

    Ferguson-Smith M. A. , 'Cytogenetic analysis by chromosome painting using DOP-PCR amplified flowsorted chromosomes ' (1992 ) 4 Gen. Chrom. Cancer : 257 -263.

    • Search Google Scholar
  • Wang, H. C. and Fedoroff, S. (1974): Trypsin technique to reveal G-bends. In: Kruse, P. F. Jr. and Patterson, M. K. Jr. (eds) Tissue Culture Methods and Applications. Academic Press, New York. pp. 782–787.

    Fedoroff S. , '', in Tissue Culture Methods and Applications , (1974 ) -.

  • Wieczorek, M., Świtoński, M and Yang, F. (2001): A low-level X chromosome mosaicism in mares, detected by chromosome painting. J. Appl. Genet. 42 , 205–209.

    Yang F. , 'A low-level X chromosome mosaicism in mares, detected by chromosome painting ' (2001 ) 42 J. Appl. Genet. : 205 -209.

    • Search Google Scholar

Monthly Content Usage

Abstract Views Full Text Views PDF Downloads
Jun 2020 0 6 3
Jul 2020 2 1 0
Aug 2020 3 0 0
Sep 2020 4 1 2
Oct 2020 5 0 0
Nov 2020 14 0 0
Dec 2020 0 0 0