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.
Mangano, L., Palmeri, S., Dotti, M.T., Moschini, F., Federico, A. (1989). Macrosomia and mental retardation: evidence of autosomal dominant inheritance in four generations. AMERICAN JOURNAL OF MEDICAL GENETICS, 32(1), 67-71 [10.1002/ajmg.1320320115].
Macrosomia and mental retardation: evidence of autosomal dominant inheritance in four generations
Palmeri, S.;Dotti, M. T.;Federico, A.
1989-01-01
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.
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https://hdl.handle.net/11365/29957
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