Skip to main content
Log in

A survey of a familial transmission of an anomalous autosome in group 13–15

  • Published:
Chromosoma Aims and scope Submit manuscript


A male child hospitalized due to undescended testes (cryptorchism) was found to possess an abnormal autosome with an unusually elongated short arm in group 13–15. A familial chromosome investigation undertaken in 14 persons related to the propositus in his paternal line and in his mother revealed that his clinically normal father, grandfather, 2 aunts and a female cousin carried the same aberrant autosome. It is evident that a carrier of the abnormal chromosome is the grandfather, that the anomalous element was transmitted, irrespective of sex, from the parents either one of whom carried the aberrant one, and that the particular autosomal abnormality is not always associated with specific phenotypic anomaly. A possible origin of the aberrant autosome is discussed.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others


  • Chandra, H. G., and D. A. Hungerford: An aberrant autosome (13–15) in a human female and her father, both apparently normal. Cytogenetics 2, 34–41 (1963).

    Google Scholar 

  • Cooper, H. L.: The use of human chromosome markers in linkage studies. Trans. N. Y. Acad Soi. 24, 383–394 (1962).

    Google Scholar 

  • Court Brown, W. M., u P. A. Jacobs, and M. Brunton: Chromosome studies on randomly chosen men and women. Lancet 1965 II, 561–562.

  • Grouchy, J. de, S. Thieffry, M. Arthuis, J. Gerbeaux, S. Poupinet,Ch. Salmon et M. Lamy: Chromosomes marqueurs familiaux et aneuploidie. Rôle possible de l'interaction chromosomique. Ann. Génét. 7, 76–83 (1964).

    Google Scholar 

  • Jacobs, P. A., M. Brunton, and W. M. Court Brown: Cytogenetic studies in leucocytes on the general populations: subjects of ages 65 years and more. Ann. hum. Genet. 27, 353–362 (1964).

    Google Scholar 

  • Källén, B., and A. Levan: Abnormal length of chromosomes 21 and 22 in four patients with Marfan's syndrome. Cytogenetics 1, 5–19 (1962).

    Google Scholar 

  • Kato, H., T. Omura, S. Tabata, and S. Makino: A preliminary note on aberrant autosome (group 13–15) in a male child and in his father. Proc. Japan Acad. 41, 477–481 (1965).

    Google Scholar 

  • Makino, S.: Chromosomal studies in normal human subjects and in 300 cases of congenital disorders. Cytologia (Tokyo) 29, 13–31 (Pt. I), 125–150 (Pt. II), 233–262 (Pt. III) (1964).

    Google Scholar 

  • —, T. Aya, and M. Sasaki: A preliminary note on a familial B/C chromosome translocation with regard to the spontaneous abortion. Proc. Japan Acad. 41, 746–750 (1965).

    Google Scholar 

  • Moorhead, P. S., P. C. Nowell, W. J. Mellman, D. M. Battips, and D. A. Hungerford Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell Res. 20, 613–616 (1960).

    Google Scholar 

  • —, W. J. Mellman, and C. Wenar: A familial chromosome translocation associated with speech and mental retardation. Amer. J. hum. Genet. 13, 32–46 (1961).

    Google Scholar 

  • Sasaki, M. S., S. Makino, and T. Kajii: Chromosomal aberrations in congenital cardiovascular disorders of man. Proc. Japan Acad. 39, 394–399 (1963).

    Google Scholar 

  • Schmid, W.: A familial chromosome abnormality associated with repeated abortions. Cytogenetics 1, 199–209 (1962).

    Google Scholar 

  • Sergovich, F. R., G. H. Valentine, M. B. Carr, and H. C. Soltan: Mongolism (Down's syndrome) with atypical and cytogenetic features. J. Pediat. 65, 197–207 (1964).

    Google Scholar 

  • Walker, S., and R. Harris: Familial transmission of a translocation between two chromosomes of the 13–15 group (Denver classification). Ann. hum. Genet. 26, 151–162 (1962).

    Google Scholar 

Download references

Author information

Authors and Affiliations


Additional information

Contribution no. 733 from the Zoological Institute, Faculty of Science, Hokkaido University, Sapporo.

The senior author (S. M.) wishes to dedicate this paper to Dr. Jakob Seiler on the occasion of his 80th birthday, May 16, 1966.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Makino, S., Muramoto, J.i. & Tabata, S. A survey of a familial transmission of an anomalous autosome in group 13–15. Chromosoma 18, 371–379 (1966).

Download citation

  • Received:

  • Issue Date:

  • DOI: