Macrosomia and mental retardation: Evidence of autosomal dominant inheritance in four generations
- 1 January 1989
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 32 (1) , 67-71
- https://doi.org/10.1002/ajmg.1320320115
Abstract
We describe a large family with 14 persons presenting macrosomia with or without mental retardation in which dominant transmission is evident over 4 generations. A wide range of phenotypic variability was observed, some patients showing macrosomia and mental impairment, others only macrosomia. The cases will be discussed in relationship with other conditions in which the 2 signs may be present, and above all in Sotos sequence.Keywords
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