X-linked intellectual handicap and precocious puberty with obesity in carrier females.
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.
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009765:Obesity / Q000235:genetics*; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics; D011247:Pregnancy; D011629:Puberty, Precocious / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome