Skip to main content
SpringerLink
Log in

X-Autosom-Translokation bei einem Kind mit multiplen Mißbildungen

  • Published:
Humangenetik Aims and scope Submit manuscript

Abstract

In an infant with multiple malformations (microcephaly, deformities of the skull, malformation of the eyes, skeletal abnormalities, inquinal hernias, malformation of the heart, severe mental retardation) we found within a modal number of 45 chromosomes one extra chromosome of a particularly large shape. On the other hand two chromosomes of the C-group were missing. Since there is agreement between the autoradiographic results in blood culture and the sex-chromatin findings we assume a partial translocation of a C-group chromosome to a X-chromosome. Whereas this X-chromosome shows a late DNA-replication pattern and seems to be inactivated, the translocated part of the autosome is not involved into the replication process of the gonosome; hence does not seem to be inactivated.

The cytogenetic findings and their relation to the hypothesis of LYON are discussed. In comparing these findings with the observed X-autosomal translocations in mice discretion is indicated. In this study the inactivation of the X-chromosome seems to remain without influence on the translocated part of the autosome. The phenotypic appearance of the child with multiple abnormalities is due to the deletion of the C-group chromosome (C'?), which is affected by the translocation.

Anamnestic data indicate that preconceptional exposure of the paternal gonads to X-rays may have caused the chromosomal aberration.

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

Access this article

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Literatur

  • Bauchinger, M., u. O. Hug: Chromosomenaberrationen nach Radium-Röntgentherapie gynäkologischer Tumoren. Strahlentherapie 131, 109–121, (1966).

    Google Scholar 

  • Biscatti, G.: Parziale delezioni dell braccia lunghe di un cromosoma del gruppe 6–12. Pediatria (Napoli) 73, 660–668 (1965).

    Google Scholar 

  • Bishop, A., M. Leese, and C. E. Blank: The relative length and arm ratio of the human late-replicating X chromosome. J. med. Genet. 2, 107–111 (1965).

    Google Scholar 

  • Böök, J. A., B. Santesson, and P. Zetterqvist: Translocation heterozygosity in man. Lancet 1961/I, 167.

  • Carter, C. O., J. L. Hamerton, P. E. Polani, A. Gunnalo, and S. D. V. Weller: Chromosome translocation as a cause of familial mongolism. Lancet 1960/II, 678–680.

  • Cattanach, B. M.: A chemically-induced variegated-type position effect in the mouse. Z. Vererbungsl. 92, 165–182 (1961).

    Google Scholar 

  • Clarke, G., A. C. Stevenson, P. Davies, C. E. Williams, and S. B. Holt: A family apparently showing transmission of translocation between chromosome 3 and one of the “X-6-12” or “C” group. J. med. Genet. 1, 27–34 (1964).

    Google Scholar 

  • Cohen, M., and V. J. Capraro: Gonadal dysgenesis in a sex chromatin positive female without apparent loss of X-chromosome material. III. Int. Congr. Hum. Genet., Chicago 1966 (abstract).

  • Conen, P. E., A. G., Bell, and N. Aspin: Chromosomal aberration in an infant following the use of diagnostic X-rays. Pediatrics 31, 72–79 (1965).

    Google Scholar 

  • Dekaban, A.: Persisting clone of cells with an abnormal chromosome in a woman previously irradiated. J. nucl. Med. 6, 740–746 (1965).

    Google Scholar 

  • Edwards, J. H., M. Fraccaro, P. Davies, R. B. Young, L. S. Penrose, and S. B. Holt: Structural heterozygosis in man: Analysis of two families. Ann. hum. Genet. 26, 163–185 (1962).

    Google Scholar 

  • Evans, H. J.: Chromosome aberrations induced by ionizing radiations. Int. Rev. Cytol. 13, 221–322 (1962).

    Google Scholar 

  • — C. E. Ford, M. F. Lyon, and J. Gray: DNA replication and genetic expression in female mice with morphologically distinguishable X chromosomes. Nature (Lond.) 206, 900–903 (1965).

    Google Scholar 

  • Ford, C. E., and E. P. Evans: A reciprocal translocation in the mouse between the X-chromosome and a short autosome. Cytogenetics 3, 295–305 (1964).

    Google Scholar 

  • Gray, J. E., J. A. Dartnall, and B. G. P. Macnamara: A family showing transmission of a translocation between a 6–12 chromosome and a 21–22 chromosome. J. med. Genet. 3, 62–65 (1966).

    Google Scholar 

  • Grouchy, J. de, et J. Canet: Translocation 6–12∼13–15 et trisomie partielle 6–12 (probablement 10). Ann. Génét. 8, 16–19 (1965).

    Google Scholar 

  • Hugh-Jones, K., S. J. Wallace, J. M. Thornber, and N. B. Atkin: Gonadal dysgenesis with unusual abnormalities. Arch. Dis. Childh. 40, 274–279 (1965).

    Google Scholar 

  • Kerr, M., M. N. Rashad, S. Christie, and A. Ross: Chromosome studies on spontaneous abortions. Amer. J. Obstet. Gynec. 94, 322–339 (1966).

    Google Scholar 

  • Lejeune, J., J. Lafourcade, J. de Grouchy, R. Berger, M. Gautier, C. Salmon et R. Turpin: Délétion partielle du bras court du chromosome 5. Individualisation d'un nouvel état morbide. Sem. Hôp. Paris 40, 1069–1079 (1964).

    Google Scholar 

  • —, R. Berger, M.-O. Rethoré, C. Salmon et M. Kaplan: Translocation Cc∼F familiale déterminant une trisomie pour le bras court du chromosome 12. Ann. Génét. 9, 12–18 (1966a).

    Google Scholar 

  • —, J. Lafourcade et M.-O. Rethoré: La délétion partielle du bras long du chromosome 18. Individualisation d'un nouvel état morbide. Ann. Génét. 9, 32–38 (1966b).

    Google Scholar 

  • Lewis, F. J. W., and J. Jancar: Presumptive translocation between a “21” chromosome and one of the 6–12+X group. Personal Communication (The Human Chromosome Newsletter, No. 12, 1964).

  • Lindsten, J., M. Fraccaro, H. P. Klinger, and P. Zetterqvist: Meiotic and mitotic studies of a familial reciprocal translocation between two autosomes of group 6–12. Cytogenetics 4, 45–64 (1965).

    Google Scholar 

  • Lyon, M. F.: Gene action in the X chromosome of the mouse (mus musculus L.). Nature (Lond.) 190, 372–373 (1961).

    Google Scholar 

  • —: Sex chromatin, and gene action in the mammalian X chromosome. Amer. J. hum. Genet. 14, 135–148 (1962).

    Google Scholar 

  • — A. G. Searle, C. E. Ford, and S. Ohno: A mouse translocation supressing sex-linked variegation. Cytogenetics 3, 306–323 (1964).

    Google Scholar 

  • Makino, S., T. Aya, and M. Sasaki: A preliminary note on a familial B/C chromosome translocation with regard to the spontaneous abortion. Proc. Jap. Acad. 41, 746–748 (1965).

    Google Scholar 

  • Mann, J. D., A. Valdmanis, S. C. Capps, and R. H. Puite: A case of primary amenorrhae with a translocation involving chromosomes of groups B and C. Amer. J. hum. Genet. 17, 377–383 (1965).

    Google Scholar 

  • Migeon, B. R.: Short arm deletions in group E and chromosomal “deletion” syndromes. J. Pediat. 69, 432–438 (1966).

    Google Scholar 

  • Miles, C. P.: Morphology and functional relations of sex chromatin in cultured amnion cells. Exp. Cell Res. 20, 324–337 (1960).

    Google Scholar 

  • Millard, R. E.: Abnormalities of human chromosomes following therapeutic irradiation. Cytogenetics 4, 277–294 (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 

  • Ohno, S.: More about the mammalian X chromosome. Lancet 1962/II, 152–153.

  • —: A phylogenetic view of the X-chromosome in man. Ann. Génét. 8, 3–8 (1965a).

    Google Scholar 

  • —: Direct handling of germ cells; in J. J. Yunis, Human chromosome methodology. New York-London: Academic Press 1965 (b).

    Google Scholar 

  • — and B. M. Cattanach: Cytologic study of an X-autosome translocation in mus musculus. Cytogenetics, 1, 129–140 (1962).

    Google Scholar 

  • — and M. F. Lyon: Cytological study of Searle's X-autosome translocation in mus musculus. Chromosoma (Berl.) 16, 90–100 (1965).

    Google Scholar 

  • Patau, K., S. L. Inhorn, and E. Therman: Lethal chromosome constitution in man; in: S. J. Geerts, Genetics today. New York: Macmillan 1963.

    Google Scholar 

  • — Identification of chromosomes; in J. J. Yunis, Human chromosome methodology. New York-London: Academic Press 1965.

    Google Scholar 

  • Pfeiefer, R. A.: Chromosomenanomalie bei einem Neugeborenen mit renofazialer Dysplasie. Dtsch. med. Wschr. 89, 2192–2195 (1964).

    Google Scholar 

  • — U. Keuth, E. Stupperich u. Th. Büchner: Klinik und Cytogenetik einer reziproken Translokation zwischen Chromosomen der Gruppe B (4–5) und D (13–15). Beitr. path. Anat. 133, 249–277 (1966).

    Google Scholar 

  • Polani, P. E., J. H. Briggs, S. E. Ford, C. M. Clark, and J. M. Berg: A mongol girl with 46 chromosomes. Lancet 1960/I, 721–724.

  • Püschel, E., H. Schade u. L. Schoeller: Multiple Mißbildungen bei heterozygoter Translokation mit 45 Chromosomen. Med. Welt (Stuttg.) 1965, 67–68.

  • Rohde, R. A., and B. Catz: Maternal transmission of a new group-C (6/9) chromosomal syndrome. Lancet 1964/II, 838–840.

  • Ruffié, J., A. Bardier, J. Ducos, P. Colombies, C. Regnier et A.-M. Salles-Mourlan: Anomalies crâniennes dans l'espèce humaine et translocation des grands bras d'un chromosome moyen sur un chromosome de la paire 1. C. R. Acad. Sci. (Paris) 260, 1821–1823 (1965).

    Google Scholar 

  • — J. Virenque, A. Bardier et P. Colombies: Remaniements chromosomiques complexes portant sur les autosomes s'accompagnant d'anomalies crâniofaciales et d'un omphalocele. C. R. Acad, Sci. (Paris) 262, 386–389 (1966).

    Google Scholar 

  • Russell, L. B.: Mammalian X-chromosome action: Inactivation limited in spread and in region of origin. Science 140, 976–978 (1963).

    Google Scholar 

  • — and J. W. Bangham: Variegated-type position effects in the mouse. Genetics 44, 532 (1959).

    Google Scholar 

  • —: Further analysis of variegated-type position effects from X-autosome translocation in the mouse. Genetics 45, 1008–1009 (1960).

    Google Scholar 

  • Saksela, E., and P. S. Moorhead: Enhancement of secondary constrictions and the heterochromatic X in human cells. Cytogenetics 1, 225–244 (1962).

    Google Scholar 

  • Sánchez Cascos, A., y E. Barreiro: Cromosoma Ph y translocation 5–12 en un case de leucemia mieloide cronica. Rev. clin. esp. 94, 10–13 (1964).

    Google Scholar 

  • Sasaki, M. S., and S. Makino: The demonstration of secondary constrictions in human chromosomes by means of a new technique. Amer. J. hum. Genet. 15, 24–33 (1963).

    Google Scholar 

  • Schmid, W.: DNA replication patterns of human chromosomes. Cytogenetics 2, 175–193 (1963).

    Google Scholar 

  • Sigler, A. T., A. M. Lilienfeld, B. H. Cohen, and J. E. Westlake: Radiation exposure in parents of children with mongolism (Down's syndrome). Bull. Johns Hopk. Hosp. 117, 374–399 (1965).

    Google Scholar 

  • Soost, H. J., F. Back, R. Pompechi, u. H. R. Jörg: In Vorbereitung.

  • Stalder, G. R., E. M. Bühler, G. Gadola, R. Widmer, and F. Freuler: A family with balanced D1→Cs-translocation carriers and unbalanced offspring. Humangenetik 1, 197–200 (1964).

    Google Scholar 

  • — u. U. K. Bühler: Nachkommen von balancierten fusions- und translokationsheterozygoten Menschen. Helv. paediat. Acta 20, 169–184 (1965).

    Google Scholar 

  • townes, P. L., G. K. Dehart, and N. Ziegler: Trisomy 17–18. An evaluation of preconceptional parental irradiation as a possible etiologic factor. J. Pediat. 65, 870–879 (1964).

    Google Scholar 

  • Turpin, R., J. Lejeune, J. Lafourcade et M. Gautier: Aberrations chromosomiques et maladies humains. La polydysspondylie à 45 chromosomes. C. R. Acad. Sci. (Paris) 248, 3636–3638 (1959).

    Google Scholar 

  • — Les chromosomes humains. Paris: Gauthier-Villars 1965.

    Google Scholar 

  • Weller, S. D. V., J. Apley, and A. B. Raper: Malformations associated with precocious synthesis of adult hemoglobin. A new chromosomal anomaly syndrome. Lancet 1966/I, 777–779.

  • Zaremba, J., K. Zajaczkowska, T. Abramowicz, I. Wald: Przemieszczenie czésci chromosomu 1 na chromosom 9–12 i zespól wad rozwojowych z niedorozwojem umyslowym. Tyg. lek. 20, 811–813 (1965).

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Kinderklinik der Universität München, München, Deutschland

    G. Neuhäuser

  2. Institut für Hämatologie der GSF, Assoziation mit EURATOM, München

    F. Back

  3. Max-Planck-Institut für Psychiatrie, Klinik 8, Kraepelinstraße 10, München 23

    G. Neuhäuser

Authors
  1. G. Neuhäuser
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. F. Back
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Herrn Professor Dr. med. T. von Lanz zum 70. Geburtstag gewidmet.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Neuhäuser, G., Back, F. X-Autosom-Translokation bei einem Kind mit multiplen Mißbildungen. Hum Genet 3, 300–311 (1967). https://doi.org/10.1007/BF00292280

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00292280

Search

Navigation