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Type A2 Brachydactily — Report of a New Family

Published online by Cambridge University Press:  01 August 2014

A. Rasore-Quartino  and
G. Camera
A. Rasore-Quartino*
Affiliation:
Chair of Human Genetics, University of Genoa, and Department of Pediatrics, Galliera Hospital, Genoa, Italy
G. Camera
Affiliation:
Chair of Human Genetics, University of Genoa, and Department of Pediatrics, Galliera Hospital, Genoa, Italy
*
Via Bottini 15-7, 16147 Genova, Italy

Abstract

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A new family with the A2 type brachydactily is described. It is the first one observed in Italy and the sixth of the world literature. Brachymesophalangy of index fingers and/or second toes is the typical osseous malformation which was present in 14 individuals from 4 generations. The defect is transmitted by an autosomal dominant gene with high penetrance and variable expressivity.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 26 , Issue 2 , April 1977 , pp. 141 - 149
Copyright
Copyright © The International Society for Twin Studies 1977

References

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