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Genetic Studies on Congenital Aural Fistula

Published online by Cambridge University Press:  01 August 2014

V. Gualandri
V. Gualandri*
Affiliation:
Centro di Studi di Genetica Umana, dell'Università di Milano
*
Centro di Studi di Genetica Umana, Università di Milano, Italia

Summary

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A research has been carried out on a sample of 29.309 Milan school children. Among them, 321 carriers of congenital aural fistula (FAC) have been found. Pedigrees could be drawn in 93 cases, covering three generations and including as collateral branches families of uncles and aunts. According to Smith's test (modified) the trait appears to be inherited as an autosomal dominant, with a penetrance of 85%. The phenotypical frequency (genetically controlled, i.e. excluding phenocopies) is of 1%, while the gene frequency may be estimated around 0.5%.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 18 , Issue 1 , January 1969 , pp. 51 - 68
Copyright
Copyright © The International Society for Twin Studies 1969

References

Bibliografia

Aird, J. (1946). Ear pit (congenital aural and preauricolar fistulae). Edin. Med. J., 53: 498.Google Scholar
Becker, P.E. (1964). Humangenetik. Georg Thieme Verlag, Stuttgart.Google Scholar
Catsch, A. (1940). Korrelationspathologische Untersuchungen. 3. Die Fibrae medulläres retinae des Menschen. Klinische erb- und konstitutionspathologische Untersuchungen. Z. Menschl. Vererb. Konstitutionsl., 24: 59.Google Scholar
Citelli, S. (1948). Malattie dell'Orecchio. UTET, Torino.Google Scholar
Gongdon, E.D., Rowhanavongse, S., Varamisara, P. (1932). Human congenital auricolar and juxta-auricolar fossae, sinuses and sears. Amer. J. Anat., 51: 439.Google Scholar
Connon, F.E. (1941). Inheritance of ear pits in six generations of a family. J. Hered., 32: 413.CrossRefGoogle Scholar
Edmonds, H.W., Keeler, C.E. (1940). Natural “Ear-ring” holes. J. Hered., 31: 507.CrossRefGoogle Scholar
Ewong, M.R. (1946). Congenital sinuses of external ear. J. Laryng., 61: 18.CrossRefGoogle Scholar
Fox, M.S. (1942). Congenital aural fistula. Arch. Otolaryng., 35: 431.CrossRefGoogle Scholar
Gates, R.R. (1946). Human Genetics. The Macmillan Co., New York.Google Scholar
Gedda, L. (1951). Studio dei Gemelli. Ed. Orizzonte Medico, Roma.Google Scholar
Gianferrari, L. (1944). Sulla trasmissione ereditaria della “Fistula auris congenita”. Natura, 35: 73.Google Scholar
Goldenhar, M. (1952). Associations malformatives de l'œil et de l'oreille: en particulier le syndrome dermoïde épibulbaire, appendices auriculaires, fistula auris congenita et ses relations avec la dysostose mandibulofaciale. J. Genet. Hum., 1: 243.Google Scholar
Gunther, R. (1939). Anomalien und Anomaliekomplexe in der Gegend des ersten Schlundbogens. Z. Menschl. Vererb. Konstitutionsl., 23: 43.Google Scholar
Heusinger, (1864). Hals-Kiemen-Fisteln von noch nicht beobachteter Form. Virchow Arch. Path. Anat., 29: 338.Google Scholar
Kindred, J.E. (1921). Inheritance of a pit in the scin of the left ear. J. Hered., 12: 366.CrossRefGoogle Scholar
Lewis, F.P. (1891). A peculiar inherited ear mark; fistula auris congenita. J. Ophthal. Otolaryng. (Chicago), 3: 14.Google Scholar
Mc Donough, E. A. (1941). On the inheritance of ear pit with special reference to twins. J. Hered., 5: 169.Google Scholar
Mc Donough, E. A. (1941). On the inheritance of ear pit. J. Hered., 32: 169.CrossRefGoogle Scholar
Miller, J.B. (1957). Branchial cleft cystis, fistulae and appendages. Laryngoscope (St. Louis), 67: 1123.CrossRefGoogle Scholar
Miller, J.B. (1950). Fistula auris congenita. Arch. Otolaryng., 51: 219.CrossRefGoogle ScholarPubMed
Monie, J.W. (1950). Three pedigrees of congenital auricolar sinus. J. Hered., 41: 245.CrossRefGoogle Scholar
Morton, N.E. (1959). Genetic test under incomplete ascertainment. Amer. J. Hum. Genet., 11: 1.Google ScholarPubMed
Pipkin, A. C., Pipkin, S.B. (1943). Ear pits and albinism in a negro family. J. Hered., 34: 240.CrossRefGoogle Scholar
Pires de Lima, J.A., Monteiro, H. B. (1923). Aparelho branquial e suas perturbaçoes évolutivas. Arch. Anat. Antr., 8: 185.Google Scholar
Quelprud, T. (1940). Ear pits and its inheritance. Fistula auris congenita described in 1864, still a genetical and embriological puzzle. J. Hered., 31: 379.CrossRefGoogle Scholar
Ride, J. (1935). Diskussionbemerkung in Bericht über die II. Versammlung der Internationalen Föderation Eugenischer Organisationen. 1934, Zurich. Arch. Klaus Stift. Vererbungsforsch., 10: 42.Google Scholar
Royk-Lewinsky. Cit. Quelprud.Google Scholar
Selkirk, T.K. (1935). Fistula auris congenita. Amer. J. Dis. Child., 49: 431.Google Scholar
Stammers, F.A. R. (1926). Pre-auricolar fistules. Brit. J. Surg., 14: 359.CrossRefGoogle Scholar
Smith, C.A.B. (1955). A test for segregation ratios in family data. Amer. J. Hum. Genet., 20: 257.CrossRefGoogle Scholar
Stannus, H.S. (1940). Congenital anomalies in a native African race. Biometrika, 10: 1.CrossRefGoogle Scholar
Starkenstein, E. (1928). Über die Vererbung einer branchiogenen Fistel. Med. Klin., 24: 701.Google Scholar
Stiles, K. A. (1945). The inheritance of pitted ear. J. Hered., 36: 53.CrossRefGoogle Scholar
Testut, L. (1949). Anatomia Umana. UTET, Torino.Google Scholar
Waidelich, E. (1960). Die Anthropogenetik der menschl. Ohrmuschel. Inaug. Diss., Tubingen.Google Scholar
Whinthey, D.D. (1939). Three generations of ear pits. J. Hered., 30: 323.Google Scholar