Macrosomia and mental retardation: evidence of autosomal dominant inheritance in four generations.
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
L
Istituto di Scienze Neurologiche e Centro delle Neuro-Encefalo-Miopatie Genetiche dell'Universita' di Siena, Italy.
Palmeri
S
S
Dotti
M T
MT
Moschini
F
F
Federico
A
A
D000293:Adolescent; D000328:Adult; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D005877:Gigantism / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype