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Macrosomia and mental retardation: evidence of autosomal dominant inheritance in four generations
L Mangano1, S Palmeri, M T Dotti
1Istituto di Scienze Neurologiche e Centro delle Neuro-Encefalo-Miopatie Genetiche dell'Universita' di Siena, Italy.
American Journal of Medical Genetics
|January 1, 1989
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.