Macrosomia and mental retardation: evidence of autosomal dominant inheritance in four generations

Am J Med Genet. 1989 Jan;32(1):67-71. doi: 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Genes, Dominant*
  • Genetic Variation
  • Gigantism / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Pedigree
  • Phenotype