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Ricerche sulla ereditarietà dell'idroftalmo e della cataratta congenita in paesi delle Prealpi Orobiche

Published online by Cambridge University Press:  01 August 2014

L. Gianferrari ,
A. Cresseri  and
A. Maltarello
L. Gianferrari
Affiliation:
Centro di Studi di Genetica umana della Università di Milano Istituto di Genetica medica e gemellologia «Gregorio Mendel»– Roma
A. Cresseri
Affiliation:
Centro di Studi di Genetica umana della Università di Milano Istituto di Genetica medica e gemellologia «Gregorio Mendel»– Roma
A. Maltarello
Affiliation:
Centro di Studi di Genetica umana della Università di Milano Istituto di Genetica medica e gemellologia «Gregorio Mendel»– Roma

Summary

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From the whole of genealogical researches on the people of B., P. and Al. towns, we came to the following conclusions:

1) the monomeric recessive autosomal transmission of hydrophtalmos, with a high degree of penetration, has been confirmed;

2) a type of congenital cataract with monomeric recessive autosomal hereditary transmission, with a comparatively reduced degree of penetration, has been located;

3) in towns B. and P. affected lines of hydrophtalmos and congenital cataract have been located;

4) the first definite heterozygotes for hydrophtalmos in town B. and for hydrophtalmos and congenital cataract in town P. have been located: they date back to the first half of the 18th Century;

5) the date of hydiovariation's inception has been located at about two or three generations before, or around the middle of the 17th Century.

Résumé

RÉSUMÉ

L'ensemble des recherches généalogiques réalisées sur la population des pays de B., de P. et de Al. nous a permis d'arriver aux conclusions suivantes:

1) la transmission autosomale recessive monomère de l'hydrophtalmie, avec pénétrance élevée, a été confirmée;

2) on a mis en evidence une forme de cataracte congénitale à transmission héréditaire autosomale recessive monomère, avec pénétrance rélativement modeste;

3) dans les pays de B. et de P. on a trouvé les lignes affectées par hydrophtalmie ou cataracte congénitale;

4) on a individué les premiers hétérozygothes certains pour l'hydrophtalmie dans les pays de B. et pour l'hydrophtalmie et la cataracte congénitale dans le pays de P.; ils remontent à la première moitié du 1700;

5) on a probablement individué le moment où l'idiovariation a commencé à deux ou trois générations précédentes, c'est-à-dire vers la moitié du XVIIe siècle.

Zusammenfassung

ZUSAMMENFASSUNG

Das Gesamtergebnis der Familienforschungen der Bevölkerung der Ortschaften B., P. und Al. gestattet uns, folgende Schlüsse zu ziehen:

1) Es bestätigt sich die rezessive, monomere, autosomalische Uebertragung des Hydrophtalmus (Augenwassersucht) mit erhöhter Verbreiterung.

2) Man findet einen angeborenen Startyp mit erblicher autosomalischer, rezessiver monomerer Uebertragung und verhältnismässig verringerter Verbreitung.

3) In den Ortschaften B. und P. finden sich einige Sippen, die mit Augenwassersucht oder angeborenen Star behaftet sind.

4) In der Ortschaft B. finden sich die ersteren sicheren Heterozygoten für Hydrophtalmus und in der Ortschaft P. für Hydrophtalmus und angeborenen Star: sie gehen bis zur ersten Hälfte des XVIII Jahrh. zurück.

5) Man hat wahrscheinlich die Idiovariation 2 oder 3 Generationen früher; d. h. also gegen Mitte des XVII Jahrh. gefunden.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 3 , Issue 1 , January 1954 , pp. 1 - 15
Copyright
Copyright © The International Society for Twin Studies 1954

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