X-linked intellectual handicap and precocious puberty with obesity in carrier females

Am J Med Genet. 1986 Jan-Feb;23(1-2):127-37. doi: 10.1002/ajmg.1320230107.

Abstract

Precocious puberty (PP) and intellectual handicap were present in 3 males in 2 generations of a Western Australian family. The 2 obligate carrier women were of normal intelligence but were grossly obese; one died of a cardiomyopathy at 55 years. The youngest affected male was found to have PP at 3 years. His mother was then pregnant, and because of her family history, was aware of the risk to have an affected male. Her mother had given birth to 2 sons with PP. By school age both of these males were mildly intellectually handicapped and this later became moderate. Apart from these 3 affected males, the 2 carriers lost 6 of their other 8 offspring, leaving only one normal woman and her unaffected son. The Fragile X test was negative on all males. This appears to be a new X-linked mental retardation syndrome, and a condition different from true idiopathic PP, or familial PP affecting both sexes, or PP with X-linked dominant inheritance.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, 13-15
  • Female
  • Genetic Linkage
  • Heterozygote
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Obesity / genetics*
  • Pedigree
  • Prader-Willi Syndrome / genetics
  • Pregnancy
  • Puberty, Precocious / genetics*
  • Syndrome
  • X Chromosome*