, Volume 9, Issue 4, pp 316–324 | Cite as

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

  • Aavo-Valdur Neeme Mikelsaar
  • Eugene Vitaljevitch Ananjev
  • Viktor Mironovitch Gindilis
Original Investigations


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.


Internal Medicine Metabolic Disease Blood Culture Chromosome Pair Length Measurement 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Aarskog, D.: A large deletion of chromosome No. 1 (46,XY,I?-). J. med. Genet. 5, 322 (1968).PubMedGoogle Scholar
  2. Cooper, H. L., Hernits, R.: A familial chromosome variant in a subject with anomalous sex differentiation. Amer. J. hum. Genet. 15, 465–475 (1963).PubMedGoogle Scholar
  3. 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.Google Scholar
  4. Gindilis, V. M.: The principles of identification of human chromosomes. Dissertation. Moscow, 1967.Google Scholar
  5. 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
  6. 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
  7. 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
  8. Philip, J., Frydenberg, O., Sele, V.: Enlarged chromosome No. 1 in a patient with primary amennorrhoea. Cytogenetics 4, 329 (1965).PubMedGoogle Scholar
  9. Prokofieva-Belgovskaya, A. A.: Heterochromatization as a change of chromosome cycle. J. Genetics 48, 80–98 (1947).Google Scholar
  10. Revazov, A. A., Derillo, T. G.: personal communication.Google Scholar
  11. Yunis, J. J. (Herausg.): Human chromosome methodology: A/P. p. 45. New York-London: Academic Press 1965.Google Scholar
  12. -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

Copyright information

© Springer-Verlag 1970

Authors and Affiliations

  • Aavo-Valdur Neeme Mikelsaar
    • 1
  • Eugene Vitaljevitch Ananjev
    • 1
  • Viktor Mironovitch Gindilis
    • 2
  1. 1.Laboratory of KaryologyInstitute of Molecular Biology of Academy of Sciences of UdSSRMoscow
  2. 2.Laboratory of General PathophysiologyInstitute of Psychiatry of Academy of Medical Sciences of UdSSRMoscow

Personalised recommendations