Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings

Am J Med Genet. 1996 Jul 12;64(1):35-41. doi: 10.1002/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q.


We report on several members of a family with varying degrees of X-linked mental retardation (XLMR), isolated growth hormone deficiency (IGHD), and infantile behaviour but without other consistent phenotypic abnormalities. Male patients continued to grow until well into their twenties and reached a height ranging from 135 to 159 cm. Except one, all female carriers were mentally normal; their adult height ranged from 159 to 168 cm. By linkage studies we have assigned the underlying genetic defect to the Xq24-q27.3 region, with a maximum lod score of Z = 3.26 at theta = 0.0 for the DXS294 locus. The XLMR-IGHD phenotype in these patients may be due to pleiotropic effects of a single gene or it may represent a contiguous gene syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Child
  • Female
  • Genetic Carrier Screening
  • Genetic Linkage*
  • Human Growth Hormone / deficiency*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Middle Aged
  • Pedigree
  • X Chromosome*


  • Human Growth Hormone