Skip to main content
Log in

Probable pericentric inversion in chromosome No. 1 in a female child (46,XX,inv(Ip+q-))

  • Original Investigations
  • Published:
Humangenetik Aims and scope Submit manuscript

Summary

A newborn female child with multiple developmental anomalies is described. The karyotype analysis performed on the chromosome preparations of the peripheral blood culture disclosed one of the homologues of the 1st chromosome pair to be morphologically changed. The results of the length measurement and the following statistical analysis allow to suppose the existence of a pericentric inversion. The parents' karyotypes are normal.

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

References

  • Aarskog, D.: A large deletion of chromosome No. 1 (46,XY,I?-). J. med. Genet. 5, 322 (1968).

    CAS  PubMed  Google Scholar 

  • Cooper, H. L., Hernits, R.: A familial chromosome variant in a subject with anomalous sex differentiation. Amer. J. hum. Genet. 15, 465–475 (1963).

    CAS  PubMed  Google Scholar 

  • Donahue, R. P.: A variant No. 1 chromosome segregating in 3 generations of a normal family. The Amer. Soc. Hum. Genet. Symposium, Dec. 1–3, 1967, Abstracts, 68–69, Toronto, Canada.

  • Gindilis, V. M.: The principles of identification of human chromosomes. Dissertation. Moscow, 1967.

  • Koulisher, L., Zanen, J.: Etude cytogenetique d'une mere et de son fils presentant la meme malformation oculaire. Bull. Soc. belge Ophthal. 138, 602–610 (1964).

    Google Scholar 

  • Lele, K. P., Dent, T., Delhanty, J. D. A.: Chromosome studies in five cases of coloboma of the iris. Lancet 1965 I, 576–578.

    Google Scholar 

  • Pätau, K., Therman, E., Inhorn, S. L., Smith, D. W., Ruess, A. L.: Partial trisomy syndromes. II. An insertion as cause of the OFD syndrome in mother and daughter. Chromosoma (Berl.) 12, 573 (1961).

    Google Scholar 

  • Philip, J., Frydenberg, O., Sele, V.: Enlarged chromosome No. 1 in a patient with primary amennorrhoea. Cytogenetics 4, 329 (1965).

    CAS  PubMed  Google Scholar 

  • Prokofieva-Belgovskaya, A. A.: Heterochromatization as a change of chromosome cycle. J. Genetics 48, 80–98 (1947).

    Google Scholar 

  • Revazov, A. A., Derillo, T. G.: personal communication.

  • Yunis, J. J. (Herausg.): Human chromosome methodology: A/P. p. 45. New York-London: Academic Press 1965.

    Google Scholar 

  • -Yunis, J. J. (Herausg.) Gorlin, R. J.: Chromosomal study in patients with cysts of the jaw, multiple nevoid basal cell carcinomata and bifid rib syndrome. Chromosoma (Berl.) 14, 146–153 (1963).

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Mikelsaar, AV.N., Ananjev, E.V. & Gindilis, V.M. Probable pericentric inversion in chromosome No. 1 in a female child (46,XX,inv(Ip+q-)). Hum Genet 9, 316–324 (1970). https://doi.org/10.1007/BF00286996

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00286996

Keywords

Navigation