Hostname: page-component-cd9895bd7-hc48f Total loading time: 0 Render date: 2024-12-25T03:22:21.952Z Has data issue: false hasContentIssue false
  • English
  • Français

Cytogenetic Study of Otosclerosis

Published online by Cambridge University Press:  01 August 2014

J. François ,
M. T. Matton-Van Leuven  and
P. Kluyskens
J. François
Affiliation:
Dept. of Ophthalmology, Div. of Medical Genetics
M. T. Matton-Van Leuven
Affiliation:
University of Ghent (Belgium)
P. Kluyskens
Affiliation:
Dept. of Oto-rhino-laryngology

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Chromosomal evaluation was done in 62 patients affected with otosclerosis, clinically and surgically proven. Numerical and structural karyotype analysis of leucocyte and fibroblast cultures, showed normal results.

Cytogenetic findings published earlier by other authors in a small series of otosclerosis patients and where mosaicism in the D-group was detected, are contradicted.

The importance of the critical evaluation of the cytogenetic method used and of the necessity to investigate cytogenetically a large enough number of patients, before linking a clinical and phenotypical condition to cytogenetic finding, is stressed.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 16 , Issue 2 , April 1967 , pp. 124 - 158
Copyright
Copyright © The International Society for Twin Studies 1967

References

Abrisqueta, J.A. (1966). Chromosome study of different phenotypical deviations. Hum. Chrom. Newsletter, 18: 4.Google Scholar
Albrecht, W. (1923). Ueber die Vererbung der konstitutionell sporadischen Taubstummheit und der Otosklerose. Arch. Ohr. Nas. Kehlheilk., 110: 15.Google Scholar
Albrecht, W. (1940). Erbbiologie und Erbpathologie des Ohren und des oberen Luftwage. Hdb. Erbbiol., 4: 83.Google Scholar
Albrecht, W. (1932). Die Otosklerose. Z.H.N.O., 29: 55.Google Scholar
Alexander, G. (1927). Die Ohrenkrankheiten im Kindesalter. Verlag. F.C.W. Vogel, Leipzig, 158.Google Scholar
Altman, (1960). Histopathology and etiology of otosclerosis. Int. Symp. Detroit, 15.Google Scholar
Apert, E. (1928). Les hommes de verre. Presse Med., 36: 805.Google Scholar
Apert, E. (1965). Otospongiose et maladie de Lobstein. In CLERC: Problèmes Actuels d'O.R.L. Maloine, Paris.Google Scholar
Ardouin, P. (1961). Les facteurs biologiques dans l'otosclérose. Rapp. I, 7e Congr. Int. Oto-Rhino-Laryng., Paris Adv. Oto-Rhino-Laryng., 8: 113 (Karger, Basel/New York).Google Scholar
Arslan, M., Ricci, V. (1960). L'otosclerosi può essere considerata come una malattia del collageno? Otolaring. Hat., 29: 6.Google Scholar
Aspillaga, M.J. et al. (1964). Chromosomal endoreduplication in a case of testicular feminization. Lancet, 1: 937.Google Scholar
Bain, A.D., Gauld, I.K. (1964). Chromosome endoreduplication in cultures of necropsy spleen. Lancet, I: 936.Google Scholar
Bast, Th., Anson, B.J. (1949). The Temporal Bone and the Ear. Thomas Ed., Springfield.Google Scholar
Bauer, J., Stein, C. (1925). Vererbung und Konstitution bei Ohrenkrankheiten. Beiträge - Klinischen Konstitutionspathologie. XI Z. Menschl. Vererb. Konstitutionsl., 10: 483.Google Scholar
Bauer, J., Stein, C. (1936). Konstitutionspathologie in der Ohrenheilkunde. Spinger, Berlin.Google Scholar
Berberich, J. (1928). Cholesterinstoffwechsel und Gehörorgan. Deutsch. Med. Wochschr., 54: 514.CrossRefGoogle Scholar
Bezold, (1961). Cit. by Müller: Zur Histopathologic der Otosklerose. Z- Laryng. Rinol., 40: 455.Google Scholar
Borghesan, (1946). L'insorgenza della sordità nella sindrome di Van der Hoeve. Atti. Clin. O.R.L., Palermo.Google Scholar
Brühl, (1926). Otosklerose Handbuch. H.N.O., Berlin, 7: 409.Google Scholar
Cawthorne, T. (1955). Otosclerosis. J. Laryng. Otol., 69: 437.Google Scholar
Chumlea, B. (1942). A pedigree of otosclerosis. J. Hered., 33: 98.CrossRefGoogle Scholar
Clerc, (1965). Otospongiose et maladie de Lobstein. Problèmes actuels d'O.R.L. Maloine, Paris, 145.Google Scholar
Conen, Erkman (1963). Abstr. Am. Assoc. Pathol. Bacteriol., Cincinati, 28: 28.Google Scholar
Cooper, H.L., Hirschhorn, K. (1964). Enlarged satellites as a familial chromosome marker. Amer. J. Human Genet., 14: 107.Google Scholar
Davenport, Ch. B. et al. (1933). The genetic factors in otosclerosis. Carnegie Institute. Eugenic Record Office. Bull. n0 27, Arch. Otolaryng., 17: 135, 340, 503.Google Scholar
De Jorge, F.B. et al. (1965). Some biochemical findings in otosclerosis. Ann. Otol. St. Louis, 74: 189.Google Scholar
De la Chapelle, A. et al. (1963). Enlarged short arm or satellite region. A heritable trait probably unassociated with developmental disorder. Cytogenetics, 2: 129.CrossRefGoogle Scholar
Demyer, W. et al. (1963). Familiar alobar holoprosencephaly (arrhinencephaly) with median cleft lip and palate. Report of a patient with 46 chromosomes. Neurology, 13: 913.CrossRefGoogle Scholar
Deunier, (1962). Troubles de l'appareil auditif et manifestations ophtalmologiques associées. Rapp. Soc.Franç. ORL, 108.Google Scholar
Dumars, K.W., Gaskill, C. (1964). Pathological conditions with apparently normal chromosomes. Hum. Chrom. Newsletter, 12: 2.Google Scholar
Edwards, T.H. (1963). Terminology of trisomie syndromes. Lancet, II: 197.Google Scholar
Ellis, J.R., Penrose, L.S. (1961). Enlarged satellites and multiple malformations in the same pedigree. Ann. Hum. Genet., 25: 159.Google Scholar
Engstrom, H. (1940). Ueber das Vorkommen der Otosklerose nebst experimentellen Studien über chirurgische Behandlung der Krankheit. Acta Oto-laryng., Suppl., 43: 1.Google Scholar
Farber, P. A. et al. (1966). Cytogenetic studies of selected patients. Hum. Chrom. Newsletter, 18: 9.Google Scholar
Fowler, E. (1949). The incidence and degrees of blue sclerae in otosclerosis and other disorders. Laryngoscope, 59: 406.Google Scholar
Fowler, E. (1954). Otosclerosis in identical twins. J. Amer. Med. Ass., 154: 304.Google Scholar
Fowler, E. (1958). Otosclerosis in 10 pairs of identical twins. Ann. Otol., 67: 889.Google Scholar
Frank, O. (1923). Die Leitung des Schalles im Ohr. S.-B. bayer. Akad. Wiss. Math.-Phys. Kl., 53: 11.Google Scholar
Fraser, (1932). Das Klinische Bild der Otosklerose. II Int. Kongr. O.R.L., Madrid 1: 59.Google Scholar
Frost, H.M. (1960). Observations on the fundamental nature of otosclerosis. Otosclerosis, Ed. H. F. Schunknecht, Churchill Ltd., London, 54.Google Scholar
Funch, (1965). Cit. by Clerc: Problèmes actuels d'O.R.L. Maloine, Paris.Google Scholar
Geitler, L. (1953). Endomitose und endomitotische Polyploidisierung. Protoplasmatologia VI/C, Springer, Wien.Google Scholar
Gillain, (1965). Cit. by Clerc: Problèmes actuels d'O.R.L. Maloine, Paris.Google Scholar
Giraud, P. et al. (1963). Clinical conditions with a normal chromosome complement. Hum. Chrom. Newsletter, 9: 5.Google Scholar
Gradenigo, (1924).La sordità creditaria. Arch. ltal. Psicol., 4: 45.Google Scholar
Gray, J.E. et al. (1962). Pericentric inversion of chromosome 21. A possible further cytogenetic mechanism in mongolism. Lancet, I: 21.Google Scholar
Grebenstein, A. (1935). Vergleichende Untersuchungen zur Histologie der Otosclerose. Arch. Ohr.-Nas-Kehlk.-Heilk., 139: 14.Google Scholar
Guild, S.R. (1944). Histologie otosclerosis. Ann. Otol. St. Louis, 53: 246.Google Scholar
Guild, S.R. (1950). The profession of empaired hearing during childhood. Laryngoscope, 60: 885.Google Scholar
Guild, S.R. (1953). Does otosclerosis cause cochlear nerve degeneration? Trans. Amer. Acad. Ophthal. Otolaryng., 57: 356.Google Scholar
Haïke, H. (1928). Zum Erbgang der Otosklerose. Arch. Rass. Ges. Biol., 20: 155.Google Scholar
Hammerschlag, V. (1904). Zur Frage der Vererbbarkeit der Otosklerose. Wien. Klin. Wschr., 1.Google Scholar
Hammerschlag, V. (1934). Einführung in die Kenntnis einfacherer mendelistischer Vorgänge. Perles, Wien/Leipzig.Google Scholar
Hernandez-Orozso, F., Courtney, G.T. (1965). Otosclerosis in identical twins. A genetic and clinical study. Ann. Otol. St. Louis, 74: 252.Google Scholar
Hernandez-Orozso, F. (1964). Genetic aspects of clinical otosclerosis. Ann. Otol. St. Louis, 73: 632.Google Scholar
Huizing, E. H. et al. (1965). Studies of progressive hereditary deafness in a Dutch family of 335 members. Ned. T. Geneesk., 109: 499.Google Scholar
Hustin, A. (1951). L'héréditéen O.R.L. Acta Oto-Rhino-Laryng. Belg., 5: 387.Google Scholar
Jackson, J.F. (1963). Polyploidy and endoreduplication in human leucocyte cultures treated with mercaptoethanol. Exp. Cell Res., 31: 194.Google Scholar
Jennings, A.N., Turner, B. (1961). Autosomal chomosome anomalies. Med. J. Aust., 2: 830.Google Scholar
Joseph, R.B., Frazer, J.P. (1964). Otosclerosis incidence in Caucasians and Japanese. Arch. Otolaryng., 80: 256.Google Scholar
Juers, A. (1950). Otosclerosis in identical twins. Ann. Otol. St. Louis, 59: 205.Google Scholar
Kabat, C. (1943). A family history of deafness. J. Hered., 34: 377.Google Scholar
Keiser, D. (1952). Syndroom van Waardenburg. Ned. T. Geneeskunde, 96: 2541.Google Scholar
Kluyskens, P., Geldof, (1965). La surdité héréditaire. Acta O.R.L. Belg., 4: 19.Google Scholar
Kobrak, (1950). Physiology and pathology of sound conduction in the ear. Trans. Am. Acad. O.O., 54: 708.Google ScholarPubMed
Koch, C., Serra, M. (1962). Ipoacusia del mongolismo. Arch. Hal. Laring, Suppl., 70: 45.Google Scholar
Körner, O. (1905). Das Wesen der Otosklerose im Lichte der Vererbungslehre. Z. Ohrenheilk., 50: 98.Google Scholar
Lange, W. (1929). Über die Anfänge der otosklerotischen Herderkrankung. Z. Hals-Nas.-Ohrenheilk., 25: 1.Google Scholar
Larson, (1963). Genetic problems in otosclerosis. Brown, Boston.Google Scholar
Larsson, A. (1960). Otosclerosis. A genetic and clinical study. Acta Otolaryng. Suppl., 154.Google Scholar
Larsson, A. (1960). Otosclerosis. Detroit, 109.Google Scholar
Leicher, H. (1925). Weitere Beiträge zur Serodiagnostik der Otosklerose und ihre Beziehung zur Geschwulstforschung. Münch. Med. Wschr., 72: 762.Google Scholar
Leiri, (1951). Is there an electrochemic factor in the pathogenesis of otosclerosis? Acta O.L., 39: 395.Google Scholar
Lejeune, J. (1964). The 21 trisomy, current stage of chromosomal research. Progress in Medicinal Genetics. Steinberg, A. G. and Beam, A.G., III: 143, Grune & Stratton, New York, London.Google Scholar
Lennartz, K. L., Rudolf, G. (1959). Entwicklungsanomalien am glomerulären Apparat der menschlichen Niere. Z. Anat. Ent. Gesch. 121: 38.CrossRefGoogle Scholar
Lin, H. M., Potter, E.L. (1962). Development of the human pancreas. Arch. Path., 74: 439.Google Scholar
Lindsten, J. (1963). The nature and origin of X chromosomal aberration in Turner Syndrome. Almkvist, Stockholm-Uppsala.Google Scholar
Liveriero, E. et al. (1962). Fattori ereditari in otorinolaringologia. Tip. Grovamir Capella., 123.Google Scholar
Lozzio, C.B. (1966). Clinical conditions with apparently normal chromosomes. Hum. Chrom. Newsletter, 18: 13.Google Scholar
Maggio, (1959). L'escrezione urinaria dei 17 chetosteroidi totali nell'otospongiosi. Arch. Hal. Otol., 60: 37.Google Scholar
Manasse, (1922). Neue Untersuchungen zur Otosklerosefrage. Z. Ohrenheilk., 82: 76.Google Scholar
Marie, I. et al. (1958). Nanisme avec surdi-mutité et rétinite pigmentaire (syndrome de Cockayne). Arch. Franc. Pediat., 15: 1101.Google Scholar
Marie, I. et al. (1958). Nanisme avec rétinite pigmentaire et surdité (syndrome de Cockayne). Ann. Pediat., 34: 500.Google Scholar
Marin-Padilla, M. et al. (1964). Anatomic and histopathologic study of two cases of D1 (13-15) trisomy. Cytogenetics, 3: 258.Google Scholar
Maurer, (1960). Otosklerose und Osteopsatyrosis. Z. Laryngol. Rhin., 35: 192.Google Scholar
Mayer, O. (1931). Referat über die patholog-anat- und Pathogenese der Otosklerose. Acta. Otolar., 15: 35.Google Scholar
Mayer, O. (1922). Der gegenwärtige Stand der Otoscklerosefrage. Int. Zbl. Ohrenheilk., 19: 257.Google Scholar
Meyer, M. (1939). Otosklerose. Mschr. Ohrenheilk., 73: 140.Google Scholar
Morishima, A. et al. (1962). Asynchronous duplication of human chromosomes and the origin of sex chromatin. Proc. Natl. Acad. Sci. U.S., 48: 756.Google Scholar
Müller, (1961). Zur Histopathologic der Otosklerose. Z. Laryng. Rhin., 40: 45.Google Scholar
Nager, F.R. (1939). Zur Klinik und pathologischen Anatomie der Otoscklerose. Acta Olo-laryng., 27: 542.Google Scholar
Nager, F.R. (1951). Ein paar Eineiige Zwillinge mit Otosklerose. Acta Oto-laryng., 39: 300.Google Scholar
Nager, F.R., Meyer, (1932). Die Erkrankungen des Knochensystems. Karger, Basel.Google Scholar
Nager, F.R., Reynier, De (1948). Das gehörorgan bei den angeboren Kopf-missbildungen. Karger, Basel.Google Scholar
Nager, F. (1921). Otosklerose bei infantiler osteopsathyrosis und Blaufärbung der Skleren. Schweiz. Med. Wschr., 2: 66.Google Scholar
Nylen, L. (1949). Histopathological investigations on otosclerotic foci. J. Laryng., 63: 321.Google Scholar
Ogilvie, Hall (1962). On aetiology of otosclerosis. J. Laryng., 76: 841.Google Scholar
Pellegrini, G. et al. (1962). Syndrome d'ankylose stapedo-vestibulaire au cours d'une maladie d'Albright. J. Franç. O.R.L., 11: 1113.Google Scholar
Pfeiffer, R.A., Kosenow, W. (1962). Further cases with apparently normal pattern. Hum. Chrom. Newsletter, 6: 3.Google Scholar
Rosenbauw, (1965). Cit. by Clerc: Problèmes actuels d'O.R.L., Maloine, Paris, 145.Google Scholar
Ruedi, L. (1961). Histopathologische Veränderungen im Innenoht bei Otosklerose. Rapp. I. 7e Congr. Int.Oto-Rhino-Laryng., Paris 1961. Fortschr. Hals.-Nas.-Ohrenheilk., 8: 77 (Karger, Basel/ New York).Google Scholar
Ruedi, L., Spöndlin, H. (1957). Die Histologie der otosklerotischen Stapesankylose im Hinblick auf die chirurgische Mobilisation des Steigbügels (Histologisches Atlas). Fortschr. Hals-Nas-Ohrenheilk., 4: 1.Google Scholar
Ruttin, (1922). Osteopsathyrose-Otosklerose. Z. Hals.-Nas.-Ohr., 13: 263.Google Scholar
Scheibe, (1895). A histological contribution to deaf-mutism. Arch. Otol., 24: 280.Google Scholar
Schmid, W. (1962). A familial chromosome abnormality associated with repeated abortions. Cytogenetics, 1: 199.Google Scholar
Schuknecht, (1960). Otosclerosis. Detroit, 97.Google Scholar
Schuknecht, (1966). Temporal bone studies in 13-15 and 18 trisomy syndromes. Arch. Otolaryngol., 83: 5, 439.Google Scholar
Schwarzacher, H.G., Schnedl, w. (1965). Endoreduplication in human fibroblast cultures. Cytogenetics, 4: 1.Google Scholar
Schwartze, (1893). Handb. Ohrenheilk. Leipzig, 2: 4.Google Scholar
Seifert, (1938). Ueber die Aetiologie und Pathogenese der Otosklerose. Arch. Ohr.-Nas.-Kehlk. Heilk., 145: 390.Google Scholar
Sercer, A. (1961). Anatomie macroscopique de l'Otosclérose. Rapp. I, 7e Congr. Int. Oto-Rhino-Laryng., Paris 1961. Progr. Oto-Rhino-Laryng., 8: 24, (Karger, Basel/New York).Google Scholar
Shambaugh, J. et al. (1956). Otolaryngology. Hagerstown.Google Scholar
Shambaugh, J. (1956). Otosclerosis. In: Coates, M., Schenk, H.P., Miller, M.V., Otolaryngology. Hagerstown, Pa.: W.F. Prior CO. Inc. 2: 2.Google Scholar
Shambaugh, J. (1960). Otolaryngology, 269.Google Scholar
Siebenmann, F. (1911). Totaler knöcherner Verschluss beider Labyrinthfenster und Labyrinthitis serosa infolge progressiver Spongiosierung. Verh. Deutsch. Otol. Ges., 267: 12.Google Scholar
Stadil, P. (1961). Examens histologiques de la peau dans le syndrome de Van der Hoeve. VII Congr. Int. O.R.L. (Paris).Google Scholar
Stevenson, R.E. et al. (1966). Possible autosomal isochromosome in a malformed child. Amer. J. Dis. Child., 111: 330.Google Scholar
Tato, J.M. et al. (1963). Chromosomal study in otosclerosis. Acta Oto-Laryng., 56: 263.Google Scholar
Tinkle, W. (1933). Deafness as an eugenical problem. J. Hered., 24: 13.CrossRefGoogle Scholar
Tobeck, A. (1953). Ergebnisse der Beweglichkeitsprüfung des Steigbügels bei Labyrinthfenstering. Z. Laryng. Rhinol., 32: 168.Google Scholar
Touraine, A. (1955). L'Hérédité en Médecine. 400.Google Scholar
Uffenorde, (1922). Die Prüfung des Hörnervenapparates mit der C5 Stimmgabel. Deutsch. Med. Wschr., 48: 120.Google Scholar
Valdmanis, A., Mann, J.D. (1964). Chromosome endoreduplication. Lancet, I: 1452.Google Scholar
der Hoeve, Van (1917). Blauwe sclera, broosheid van het beenstelsel en gehoorstoornissen. Nederl. T. Geneesk, 1: 1003.Google Scholar
Leeuwen, Van (1953). Z. Klin. Med., 534.Google Scholar
Leeuwen, Van (1955). Diss. Leiden. Google Scholar
Voss, O. (1927). Stoffenwechselstörungen und Ohr. Karger, Berlin.Google Scholar
Weber, M. (1936). Zur Frage des Erbganges der Otosklerose. Erbbl. Hals.-Nas.-Ohrenartz, 1: 3.Google Scholar
Weber, M. (1935). Otosklerose und Umbau der Labyrinthkapsel. Offizin Poescl, & Trepte, Leipzig.Google Scholar
Weber, M. (1961). Die Histopathologie der Otosklerose. Die Knochenveränderungen. Rapp. I, 7e Congr. Int. OtoRhino-Laryng., Paris 1961. Fortschr. Hals-Nas.-Ohrenheilk., 8: 44.Google Scholar
Wildervanck, L.S. (1964). The significance of associated anomalies in deafness. U.S. Goverm. Print. Office, Washington, 632.Google Scholar
Wittmaack, K. (1919). Die Otosklerose auf Grund eigener Forschungen. Fischer, Jena,Google Scholar
Yunis, J.J. et al. (1964). Desoxyribonucleic-acid-replication pattern of trisomy D1 . Lancet, II: 935.Google Scholar
Yunis, J.J., Hook, E.B. (1965). In press.Google Scholar