Zeitschrift für Kinderheilkunde

, Volume 115, Issue 4, pp 283–294 | Cite as

XO/XY-Geschlechtschromosomen-Mosaik bei einem Kind mit progressiver spinaler Muskelatrophie

  • Jürgen Kunze
  • Marlis Tolksdorf
Article

Zusammenfassung

Wir berichten über klinische und cytogenetische Befunde bei einem Kind mit progressiver spinaler Muskelatrophie und XO/XY-Geschlechts-chromoomen-Mosaik.

Der 1jährige Junge zeigt eine deutliche statomotorische Entwicklungsverzögerung bei generalisierter Muskelhypotonie und erheblicher Bewegungsarmut. Er bietet eine Areflexie (PSR und ASR), “Henkelstellung” beider Arme und Zungenfasciculieren. Der Verdacht auf das Vorliegen einer progressiven spinalen Muskelatrophie Werdnig-Hoffmann wurde durch die Elektromyographie und Muskelbiopsie bestätigt.

Lymphangiektatische Fußrückenpolster und Cutis laxa ließen an ein Turner-Syndrom denken. Das äußere Genitale was weitgehend unauffällig. Cytogenetisch wurde ein XO/XY-Mosaik aufgedeckt. Das Y-Chromosom konnte in diesem Fall durch die Darstellung des centromeren konstitutiven Heterochromatins mit Hilfe der C-Banden-Technik identifiziert werden.

Zusammenhänge zwischen Chromosomenaberrationen und neuro-muskulären Erkrankungen werden diskutiert. Die Kombination chromosomaler und neuro-muskulärer Störungen scheint zufällig. Ein kausaler Zusammenhang läßt sich nicht aufdecken.

XO/XY-sex-chromosomes-mosaicism in a child with progressive spinal muscular atrophy

Abstract

We report clinical and cytogenetical findings in a child with progressive spinal muscular atrophy and XO/XY mosaicism.

The patient, 1 year old, shows a distinct motor retardation with generalized muscular hypotonia and paucity of movements. There are no deep tendon reflexes of the lower extremities, the position of the arms is reminiscent of a frog and the tongue is fasciculating. The suspicion of progressive muscular atrophy, of the Werdnig-Hoffmann type is confirmed by electromyography and muscle biopsy.

Lymphangiectatic edema of the dorsal surface of the feet suggested Turner's syndrome. The external genitalia were unremarkable. We found XO/XY mosaicism. The Y chromosome was identified in this case by demonstration of the centromeric constitutive heterochromatin with C-banding method.

Possible connections between chromosomal aberrations and neuromuscular diseases are discussed. The combination of chromosomal and neuromuscular defects appears to be coincidental. No causal relationship could be proved.

Key words

Progressive spinal muscular atrophy XO/XY mosaicism Centromeric constitutive heterochromatin C-banding method 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  1. Arrhigi, F. E., Hsu, T. C.: Localisation of heterochromatin in human chromosomes. Cytogenetics 10, 2, 81 (1971)Google Scholar
  2. Bobrow, M., Pearson, P. L., Pike, M. C., El-Alfi, O. S.: Length variation in the quinacrine-binding segment of human Y chromosomes of different sizes. Cytogenetics 10, 190 (1971)Google Scholar
  3. Bobrow, M., Madan, K.: A comparison of chimpanzee and human chromosomes using the Giems-11-and other chromosome banding techniques. Cytogen. Cell. Genet. 12, 2, 107 (1973)Google Scholar
  4. Bover, G. F., Sanchez, T. S., Candela, R. B.: Cromosoma Y “gigante” en una familia con dos casos de distrofia muscular progressiva. Med. esp. 53, 439 (1965)Google Scholar
  5. Bowen, R., Lee, C. S. N., Harvey, I. C.: Balanced reciprocal translocation between two D-group chromosomes in a family with myotonic dystrophie. Amer. J. Med. Sci. 255, 368 (1968)Google Scholar
  6. Böwing, B., Rott, H.-D., Schwanitz, G.: Arthrogryposis multiplex congenita mit Klinefelter-Syndrom. Z. Kinderheilk. 107, 252 (1969)Google Scholar
  7. Brandt, S.: Werdnig-Hoffmanns infantile progressive muscular atrophie. Kopenhagen: Munksgaard 1950Google Scholar
  8. Chen, T. R., Ruddle, F. H.: Karyotype analysis utilizing differentially stained constitutive heterochromatin of human and murine chromosomes. Chromosoma (Berl.) 34, 51 (1971)Google Scholar
  9. Chernay, P. R., Kardon, N. B., Hsu, L. Y., Shapiro, L. P., Beratis, N. G., Kerr, J., Hirschhorn, K.: A differential staining technique for chromosome identification and its comparison with fluorescence technique. Clin. Genet. 3, 5, 347 (1972)Google Scholar
  10. Cohen, M. M.: The chromosomal constitution of 165 human translocations involving D group chromosomes identified by autoradiography. Ann. Génét. 14, 87 (1971)Google Scholar
  11. Cohen, M. M., Shaw, M. W., MacCluer, J. W.: Racial differences in the length of the human Y chromosome. Cytogenetics 5, 34 (1966)Google Scholar
  12. Comings, D. E.: In: Advances in human genetics, Vol. 3, p. 237. Edited by H. Harris, K. Hirschhorn. New York-London: Plenum Press 1972Google Scholar
  13. Comings, D. E., Avelino, E., Okada, T. A., Wyandt, H. E.: The mechanism of G and C banding of chromosomes. Exp. Cell. Res. 77, 469 (1973)Google Scholar
  14. Cooper, H. L., Juppermann, H. S., Rendon, O. R., Hirschhorn, K.: Sex chromosome mosaicism of type XYY/XO. New Engl. J. Med. 266, 699 (1962)Google Scholar
  15. Craig-Holmes, A. P., Moore, F. B., Shaw, M. W.: Polymorphism of human C-band heterochromatin. I. Frequency of variants. Amer. J. Hum. Genet. 25, 2, 181 (1973)Google Scholar
  16. Craig-Holmes, A. P., Shaw, M. W.: Polymorphism of human constitutive heterochromatin. Science 174, 702 (1971)Google Scholar
  17. Daly, R. F., Chun, R. W. M., Ewanowski, S., Osborne, R. H.: The XYY condition in childhood: clinical observations. Pediatrics 43, 5, 852 (1969)Google Scholar
  18. Eberle, P., Becker, P. E.: Chromosomenuntersuchungen bei Myotonie. Humangenetik 1, 92. Stuttgart: Thieme 1964Google Scholar
  19. Ferrier, P., Bamatter, F., Klein, D.: Muscular dystrophy (Duchenne) in a girl with Turners syndrome. J. Med. Genet. 2, 38 (1965)Google Scholar
  20. Fitzgerald, P. H., Caughey, J. E.: Chromosomes and sex chromatin studies in cases of dystrophia myotonica. N. Z. med. J. 61, 410 (1962)Google Scholar
  21. Gilgenkrantz, S., Cabrol, C., Simon, D., Pierson, M., Neimann, N.: Chromosome mosaics 47, XYY/45, XO. Nouv. Presse Med. 2, 9, 563 (1973)Google Scholar
  22. Hamerton, J. L.: Human Cytogenetics, Vol. II, 122+263. New York-London: Academic Press 1971Google Scholar
  23. Jacobs, P. A., Harnden, D. G., Buckton, K. E., Brown, W. M. C., King, M. J., McBride, J. A., MacGregor, T. N., Maclean, N.: Cytogenetic studies in primary amenorrhoea. Lancet 1961 I, 1183Google Scholar
  24. Jago, R. H.: Arthrogryposis following treatment of maternal tetanus with muscle relaxants. Arch. Dis. Childh. 45, 277 (1970)Google Scholar
  25. Jost, H.: Sur le contrôle hormonale de la différenciation sexuelle du lapin. Arch. Anat. micr. Monph. exp. 39, 577 (1950)Google Scholar
  26. Kim, M. A.: Polymorphismus des konstitutiven Heterochromatins bei menschlichen A1-Metaphasechromosomen. Humangenetik 18, 3, 213 (1973)Google Scholar
  27. Kim, M. A., Bier, L., Pawlowitzki, I. H., Pfeiffer, R. A.: Human Y chromosomes with two fluorescing bands after staiting with quinacrine derivates. Human-genetik 13, 238 (1971)Google Scholar
  28. Knuutila, S., Gripenberg, U.: The fluorescence pattern of a human Yq+chromosome. Hereditas (Lund) 70, 2, 307 (1972)Google Scholar
  29. Krieger, I., Espiritu, C. E.: Arthrogryposis multiplex congenita and the Turner phenotype. Amer. J. Dis. Child. 123, 2, 141 (1972)Google Scholar
  30. Lehrnbecher, W., Lucas, G. J., Picciano, D., Jacobson, C. B.: Progressive neuromuscular and skeletal disorder in a male with an acrocentric supernumerary chromosome. Nature (Lond.) 227, 612 (1970)Google Scholar
  31. Lubs, H. A., Ruddle, F. H.: Chromosome polymorphism in American negro and white populations. Nature (Lond.) 233, 134 (1971)Google Scholar
  32. Manolov, G., Manolova, Y., Fiskesjö, G., Levan, A.: The complexity of the fluorescent pattern of the human Y chromosome. Hereditas (Lund) 68, 2, 328 (1971)Google Scholar
  33. McKenzie, W. H., Hostetter, T. L., Lubs, H. A.: Y family study: Heritable variation in the length of the human Y chromosome. Amer. J. hum. Genet. 24, 6, 686 (1972)Google Scholar
  34. McKenzie, W. H., Lubs, H. A.: An analysis of the technical variables in the production of C bands. Chromosome (Berl.) 41, 175 (1973)Google Scholar
  35. Mead, N. G., Lithgar, W. C., Sweeny, H. J.: Arthrogryposis multiplex congenita. J. Joint Surg. 40, 1285 (1958)Google Scholar
  36. Mutton, D. E., Gross, N.: Chromosomes in dystrophia myotonica. Lancet 1965 II, 289Google Scholar
  37. Nakagome, Y., Kawazura, M., Fukuyama, Y.: Chromosome studies on four families including 8 patients of Duchenne type muccular dystrophy. Brain Nerve (Tokyo) 15, 1156 (1963)Google Scholar
  38. Nars, P. W.: Das XO/XY-Geschlechtschromosomenmosaik. Humangenetik 7, 185 (1969)Google Scholar
  39. Nielsen, J., Friedrich, U.: Length of the Y chromosome in criminal males. Clin. Genet. 3, 4, 281 (1972)Google Scholar
  40. Ohno, S.: Simplicity of mammalian regulatory systems inferred by single gene determination of sex phenotypes. Nature (Lond.) 234, 134 (1971)Google Scholar
  41. Ohno, S., Tettenborn, U., Dofuku, R.: Molecular biology of sex differentiation. Hereditas (Lund) 69, 107 (1971)Google Scholar
  42. Pfeiffer, R. A., Hüther, W.: Trisomie des Chromosoms Nr. 18 unter dem Bild einer Arthrogryposis multiplex congenita. Med. Klin. 58, 1110 (1963)Google Scholar
  43. Pfeiffer, R. A., Lambertz, B., Friederiszick, F. K., Distel, H., Pawlowitzki, I. H., Nicole, R., Ober, K. G., Ruckes, J.: Die nosologische Stellung des XO/XY-Mosaizismus. Arch. Gynäk. 206, 369 (1968)Google Scholar
  44. Reitalu, J., Bergmann, S., Ekwall, B., Hall, B.: Correlation between Y chromosome length and fluorescence intensity of Y chromatin on interphase nuclei. Hereditas (Lund) 72, 2, 261 (1972)Google Scholar
  45. Ruffié, J., Geraud, J., Ducos, J., Benazet, A. M., Colombies, P.: Découverte d'un chromosome marqueur familial lors de l'étude cytogénétique d'un enfant atteint d'une forme grave de myopathie. Ann. Génét. 8, 89 (1965)Google Scholar
  46. Schnedl, W.: Fluoreszenzuntersuchungen über die Längenvariabilität des Y-Chromosoms beim Menschen. Humangenetik 12, 188 (1971)Google Scholar
  47. Sperling, K., Lackmann, I.: Large human Y chromosome with two fluorescent bands. Clin. Genet. 2, 6, 352 (1971)Google Scholar
  48. Sumner, A. T., Evans, H. J., Buckland, R. A.: New technique for distinguishing between human chromosomes. Nature (New Biol.) 232, 27, 31 (1971)Google Scholar
  49. Sumner, A. T.: A simple technique for demonstrating centromeric heterochromatin. Exp. Cell. Res. 75, 1, 304 (1972)Google Scholar
  50. Sune, M. V., Centeno, J. V., Slazano, F. M.: Gonadeoblastoma in a phenotypic female with 45, X/47,XYY mosaicism. J. med. Genet. 7, 410 (1970)Google Scholar
  51. Taylor, A. L., Moores, E. C.: A sex chromatin survey of newborn children in two London Hospitals. J. med. Genet. 4, 258 (1967)Google Scholar
  52. Tishler, P. V., Lambrorot-Manzur, M., Atkins, L.: Polymorphism of the human Y chromosome: Fluorescence microscopic studies on the sites of morphologic variation. Clin. Genet. 3, 2, 116 (1972)Google Scholar
  53. Tolksdorf, M., Groß-Selbeck, G., Hamann, H. J., Schulte, S. J.: Autosomal abnormality in a child with arthrogryposis multiplex (?). Wiss. Ausstellung XIII. Internat. Kongreß f. Pädiatrie, Wien, 29. 8. bis 4. 9. 1971Google Scholar
  54. Wahlström, J.: Are variations in length of Y chromosome due to structural changes? Hereditas (Lund) 69, 1, 125 (1971)Google Scholar
  55. Woolacott, S., Pearce, J.: A myotonic syndrome associated with Klinefelters syndrome. J. med. Genet. 4, 299 (1967)Google Scholar
  56. Zellweger, H.: The genetic heterogeneity of spinal muscular atrophy (SMA). Birth defects: Original article series. The second conference on the clinical delinetaion of birth defects, Part VII, Vol. VII, No. 2, p. 82 (1971)Google Scholar

Copyright information

© Springer-Verlag 1973

Authors and Affiliations

  • Jürgen Kunze
    • 1
  • Marlis Tolksdorf
    • 1
  1. 1.Universitäts-Kinderklinik KielKielDeutschland

Personalised recommendations