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OMIA:002982-9685 : Aneuploidy, trisomy, sex chromosome XXY in Felis catus (domestic cat)

In other species: Agile wallaby , dog , domestic horse , pig , taurine cattle , sheep

Categories: Reproductive system phene , Chromosomal phene

Links to relevant human diseases in MONDO:

Single-gene trait/disorder: no

Disease-related: unknown

Key variant known: no

Cross-species summary: This phene includes information about differences of sexual development (DSD) in animals due to XXY trisomy of sex chromosomes. This phenotype is called  Klinefelter syndrome in humans.

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002982-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2018 Szczerbal, I., Krzeminska, P., Dzimira, S., Tamminen, T.M., Saari, S., Nizanski, W., Gogulski, M., Nowacka-Woszuk, J., Switonski, M. :
Disorders of sex development in cats with different complements of sex chromosomes. Reprod Domest Anim 53:1317-1322, 2018. Pubmed reference: 30099782. DOI: 10.1111/rda.13263.
1996 Axner, E., Strom, B., Linde Forsberg, C., Gustavsson, I., Lindblad, K., Wallgren, M. :
Reproductive disorders in 10 domestic male cats Journal of Small Animal Practice 37:394-401, 1996. Pubmed reference: 8872943.
1992 Quackenbush, R.E. :
Genetics of the domestic cat - A lab exercise. American Biology Teacher 54:29-32, 1992.
1988 Chastain, C.B., Guilford, W.G., Schmidt, D. :
The 38,XX/39,XXY genotype in cats Compendium on Continuing Education for the Practicing Veterinarian 10:18-22, 1988.
1984 Moran, C., Gillies, C.B., Nicholas, F.W. :
Fertile male tortoiseshell cats: mosaicism due to gene instability? Journal of Heredity 75:397-402, 1984. Pubmed reference: 6481130.
1981 Hageltorn, M., Gustavsson, I. :
XXY-trisomy identified by banding techniques in a male tortoiseshell cat. J Hered 72:132-4, 1981. Pubmed reference: 7196925.
Long, S.E., Gruffydd-Jones, T., David, M. :
Male tortoiseshell cats: an examination of testicular histology and chromosome complement Research in Veterinary Science 30:274-280, 1981. Pubmed reference: 7255921.
1980 Nicholas, F.W., Muir, P., Toll, G.L. :
An XXY male Burmese cat Journal of Heredity 71:52-54, 1980.
1975 Centerwall, WR., Benirschke, K. :
An animal model for the XXY Klinefelter's syndrome in man: tortoiseshell and calico male cats. Am J Vet Res 36:1275-80, 1975. Pubmed reference: 1163864.
1973 Centerwall, WR., Benirschke, K. :
Male tortoiseshell and calico (T-C) cats. Animal models of sex chromosome mosaics, aneuploids, polyploids, and chimerics. J Hered 64:272-8, 1973. Pubmed reference: 4798734.
1971 Gregson, NM., Ishmael, J. :
Diploid-triploid chimerism in 3 tortoiseshell cats. Res Vet Sci 12:275-9, 1971. Pubmed reference: 5103434.
Pyle, R.L., Patterson, D.F., Hare, W.C., Kelly, D.F., Digiulio, T. :
XXY sex chromosome constitution in a Himalayan cat with tortoise-shell points. J Hered 62:220-2, 1971. Pubmed reference: 5137354. DOI: 10.1093/oxfordjournals.jhered.a108154.
1970 Loughman, W.D., Frye, F.L., Condon, T.B. :
XY/XXY bone marrow mosaicism in three tricolour cats American Journal of Veterinary Research 31:307-314, 1970. Pubmed reference: 5414872.
1969 Jones, T.C. :
Anomalies of sex chromosomes in tortoiseshell male cats. Comparative Mammalian Cytogenetics, (ed. Benirschke, K.). Springer-Verlag, New York :414-433, 1969.
Ramberg, R.E., Norby, D.E., Thuline, H.C. :
Chromosome mosaicism in male calico cats. Northwest Science 43:42, 1969.
1964 Chu, EH., Thuline, HC., Norby, DE. :
Triploid-diploid chimerism in a male tortoiseshell cat Cytogenetics 24:1-18, 1964. Pubmed reference: 14154339.
Komai, T., Ishihara, T. :
Origin of male tortoiseshell cat. Journal of Cat Genetics 1:4-10, 1964.
Thuline, H.C. :
Male tortoiseshell, chimerism and true hermaphroditism Journal of Cat Genetics 4:2-3, 1964.
1963 Matano, J. :
A study of the chromosomes in the cat. Japanese Journal of Genetics 38:147-156, 1963.
Pelton, L. :
Breeding Blue-cream Persians All-Pets Magazine 34:56,60, 1963.
Shaw, D.H. :
Genetic aspects of new breeds and new colours Journal of Cat Genetics 1:16-20, 1963.
Stringham, M.G. :
Toms which defy science. All-Pets Magazine 34:24, 61, 1963.
1962 Froto-Pessoe, O. :
XO and XXY karyotypes in cats ?. Lancet 279:1304-1305, 1962.
LYON, M.F. :
Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 14:135-48, 1962. Pubmed reference: 14467629.
1961 Thuline, H.C., Norby, D.E. :
Spontaneous occurrence of chromosome abnormality in cats Science 134:554-555, 1961. Pubmed reference: 13776765.
1956 Ishihara, T. :
Cytological studies on tortoiseshell male cats Cytologia 21:391-398, 1956.
Sprague, L.M., Stormont, C. :
A reanalysis of the problem of the male Tortoiseshell cat Journal of Heredity 47:237-240, 1956.
1952 Komai, T. :
On the origin of the tortoiseshell cat: a correction. Proceedings of the Japan Academy 28:150-155, 1952.
1927 Bamber, R.C., Herdman, E.C. :
The inheritance of black, yellow and tortoiseshell coat colour in cats Journal of Genetics 18:87-97, 1927. DOI: 10.1007/BF03052604.
1920 Doncaster, L. :
The tortoiseshell tomcat: a suggestion. Journal of Genetics 9:335-337, 1920.
1919 Little, C.C. :
Colour inheritance in cats, with special reference to colours, black, yellow and tortoiseshell. Journal of Genetics 8:279–290, 1919. DOI: 10.1007/BF02983269.
1915 Cutler, D.W., Doncaster, L. :
On sterility of the tortoiseshell tomcat. Journal of Genetics 5:65-73, 1915.
1904 Doncaster, L. :
On the inheritance of tortoiseshell and related colours in cats Proceedings of the Cambridge Philosophical Society 13:35-38, 1904. URL: https://www.biodiversitylibrary.org/page/27173260.

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  • Created by Imke Tammen2 on 11 Sep 2025