Summary
Chromosome investigation of 35 individuals with a 5p- karyotype and their families revealed the presence of 27 apparently terminal deletions, four interstitial deletions, and four translocations, including two familial cases. Four of the probands with simple deletions and one of the mothers were mosaics. Unusual chromosomal heteromorphism, as rendered visible after acridine orange staining, was observed on the short arm of chromosome 14 in two cases and, after heterochromatin staining, on chromosome 19 in one family. Measurement studies, carried out in probands with simple deletions and in two control groups, showed a short-arm loss clustering between 32% and 62% of the normal short-arm length. Using at least two complementary staining methods per proband, we found that the midportion of the 5p15 segment probably must be deleted to develop the typical clinical features of the cri du chat syndrome.
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Bloom, S. E., Goodpasture, C.: An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes. Humangenetik 34, 199–206 (1976)
De Capoa, A., Warburton, D., Breg, W. R., Miller, D. A., Miller, O. J.: Translocation heterozygosis: A cause of five case of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families. Am. J. Hum. Genet. 19, 586–603 (1967)
Caspersson, T., Lindsten, J., Zech, L.: Identification of the abnormal B group chromosome in the cri du chat syndrome by QM-fluorescence. Exp. Cell Res. 61, 475–476 (1970a)
Caspersson, T., Zech, L., Johansson, C., Modest, E. J.: Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma 30, 215–227 (1970b)
Crossen, P. E.: Variation in the centromeric banding of chromosome 19. Clin. Genet. 8, 218–222 (1976)
DuPraw, E. J.: DNA and chromosomes. New York: Holt, Rinehart and Winston 1970
Dutrillaux, B.: Nouveau système de marquage chromosomique: Les bandes T. Chromosoma 41, 395–402 (1973)
Dutrillaux, B., Laurent, C., Couturier, J., Lejeune, J.: Coloration par l'acridine orange de chromosomes préalablement traités par le 5-bromodésoxyuridine (BUdR). C.R. Acad. Sci. (Paris) 276, 3179–3181 (1973)
Dutrillaux, B., Lejeune, J.: Sur une nouvelle technique d'analyse du caryotype humain. C.R. Acad. Sci. (Paris) 272, 2638–2640 (1971)
Francke, U.: Quinacrine mustard fluorescence of human chromosomes: Characterization of unususal translocations. Am. J. Hum. Genet. 24, 189–213 (1972)
Friedrich, U., Nielsen, J.: Autosomal deletions 46,XY, del(12)(p11) and 46,XY/46,XY,del(5) (p13) with no effect on physical and mental development. Humangenetik 21, 127–132 (1974)
Garcia, F. P., Garrabou, L. B., Mezquita, G. A., Garcia, V. A., Garcia, M. L. M.: Chromosome deletion point in ‘cri du chat’ syndrome. An. Esp. Pediatr. 9, 170–173 (1976)
German, J., Lejeune, J., Macintyre, M. N., Grouchy, J. de: Chromosomal autoradiography in the cri du chat syndrome. Cytogenetics 3, 347–352 (1964)
Goodpasture, C., Bloom, S. E.: Visualization of nucleolar organizer regions in mammalian chromosomes using silver staining. Chromosoma 53, 37–50 (1975)
Hook, E. B.: Exclusion of chromosomal mosaicism: Tables of 90%, 95%, and 99% confidence limits and comments on use. Am. J. Hum. Genet. 29, 94–97 (1977)
Hsu, T. C.: Longitudinal differentiation of chromosomes and the possibility of interstitial telomeres. Exp. Cell Res. 9 (Suppl.) 73–85 (1963)
Leisti, J., Kaback, M. M., Rimoin, D. L.: Cri-du-chat and trisomy 13 syndromes in an infant with an unbalanced chromosomal translocation. Birth defects: Orig. Art. Ser. 11, 317–319 (1975)
Lejeune, J., Lafourcade, J., Berger, R., Vialette, J., Boeswillwald, M., Seringe, P., Turpin, R.: Trois cas de délétion partielle du bras court d'un chromosome 5. C.R. Acad. Sci. (Paris) 257, 3098–3102 (1963)
Lima-de-Faria, A., Servella, P.: The organization of telomeres in species of Solanum, Salvia, Scilla, Secale, Agapanthus and Ornithogalum. Hereditas 44, 337–346 (1958)
McClintock, B.: Cytological observations of deficiencies involving known genes, translocations and an inversion in Zea mays. Agric. Exp. Station. Res. Bull. 163, 1–30 (1931)
Miller D. A., Warburton, D., Miller, O. J.: Clustering in deleted short-arm length among 25 cases with a Bp- chromosome. Cytogenetics 8, 109–116 (1969)
Muller, H. J.: An analysis of the process of structural change in chromosomes of Drosophila. J. Genet. 40, 1–66 (1940)
Muller, H. J., Herskowitz, I. H.: Concerning the healing of chromosome ends produced by breakage in Drosophila melanogaster. Am. Nat. 88, 177–208 (1954)
Müntzing, A.: Ärftlighetsforskning, pp. 1–528. Stockholm: LtS förlag 1971
Niebuhr, E.: Localization of the deleted segment in the cri-du-chat syndrome. Humangenetik 16, 357–358 (1972a)
Niebuhr, E.: A 45,XX,5-,13-,dic+ karyotype in a case of cri-du-chat syndrome. Cytogenetics 11, 165–177 (1972b)
Paris Conference (1971): Standardization in human cytogenetics. In: Birth defects: Orig. Art. Ser. 8, 7 (1972)
Philip, J., Brandt, N. J., Friis-Hansen, B., Mikkelsen, M., Tygstrup, I.: A deleted B chromosome in a mosaic mother and her cri du chat progeny. J. Med. Genet. 7, 33–36 (1970)
Sumner, A. T.: A simple technique for demonstrating centromeric heterochromatin. Exp. Cell Res. 75, 304–306 (1972)
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Niebuhr, E. Cytologic observations in 35 individuals with a 5p- karyotype. Hum Genet 42, 143–156 (1978). https://doi.org/10.1007/BF00283634
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DOI: https://doi.org/10.1007/BF00283634