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Considerazioni su di una famiglia con Retinosi Pigmentaria e Sindrome di Laurence-Moon-Bardet-Biedl

Published online by Cambridge University Press:  01 August 2014

L. Romei  and
G. Ioli-Spada
L. Romei
Affiliation:
Istituto di Gcnetica Medica e Gemellologia, “G. Mendel” - Roma Clinica Oculistica dell'Università, di Roma
G. Ioli-Spada
Affiliation:
Istituto di Gcnetica Medica e Gemellologia, “G. Mendel” - Roma Clinica Oculistica dell'Università, di Roma

Summary

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A recessive pedigree of retinitis pigmentosa and Laurence-Moon-Bardet-Biedl syndrome. The retinitis affects all male children of a normal couple; the only female child shows a complete Laurence-Moon-Bardet-Biedl syndrome. The pedigree of the family shows no other case of the disease in six generations.

Zusammenfassung

ZUSAMMENFASSUNG

Stammbaum mit pigmentärer Retinose und Laurence-Moon-Bardet-Biedl Syndrome rezessiver Art. Die Retinose erscheint in allen Söhnen eines normalen Ehepares, während die einzige Tochter ein kompletes Laurence-Moon-Bardet-Biedl Syndrome entwickelt. Die genealogische Untersuchung die 6 Generationen umfasst, zeigt keine anderen Fälle dieser Krankheiten.

Sommario

SOMMARIO

Albero genealogico di retinosi pigmentaria e sindrome di Laurence-Moon-Bardet-Biedl a carattere recessivo. La retinosi compare in tutti i figli maschi di una coppia normale, mentre l'unica figlia femmina sviluppa una sindrome completa di Laurence-Moon-Bardet-Biedl. L'indagine genealogica comprendente 6 generazioni, non rivela la comparsa di altri casi della malattia.

Résumé

RÉSUMÉ

Arbre généalogique de rétinose pigmentaire et syndrome de Laurence-Moon-Bardet-Biedl du type recessif. La rétinose paraît chez tous les enfants mâles d'un couple normal tandis que la seule fille développe un syndrome complet de Laurence-Moon-Bardet-Biedl. La recherche généalogique, comprenant 6 générations, ne révèle aucun autre cas de la maladie.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 8 , Issue 4 , October 1959 , pp. 487 - 492
Copyright
Copyright © The International Society for Twin Studies 1959

References

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