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.
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Aarskog, D.: A large deletion of chromosome No. 1 (46,XY,I?-). J. med. Genet. 5, 322 (1968).
Cooper, H. L., Hernits, R.: A familial chromosome variant in a subject with anomalous sex differentiation. Amer. J. hum. Genet. 15, 465–475 (1963).
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).
Lele, K. P., Dent, T., Delhanty, J. D. A.: Chromosome studies in five cases of coloboma of the iris. Lancet 1965 I, 576–578.
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).
Philip, J., Frydenberg, O., Sele, V.: Enlarged chromosome No. 1 in a patient with primary amennorrhoea. Cytogenetics 4, 329 (1965).
Prokofieva-Belgovskaya, A. A.: Heterochromatization as a change of chromosome cycle. J. Genetics 48, 80–98 (1947).
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.
-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).
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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
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DOI: https://doi.org/10.1007/BF00286996