Shashi XLMR syndrome: report of a second family

Am J Med Genet A. 2003 Apr 1;118A(1):49-51. doi: 10.1002/ajmg.a.10888.


This report describes a family with mental retardation in two brothers. The pedigree is consistent with either X-linked mental retardation or autosomal recessive inheritance. The clinical features consist of coarse face, prominent lower lip, large testes, and obesity. This same constellation of findings was observed in a family with X-linked mental retardation (XLMR) reported by Shashi et al. [2000: Am J Hum Genet 66:469-479]. Furthermore, haplotype analysis was consistent with localization of the Shashi XLMR syndrome in Xq26-q27. Thus, the family likely represents a second occurrence of the Shashi XLMR syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Female
  • Genetic Markers
  • Humans
  • Male
  • Mental Retardation, X-Linked / genetics*
  • Pedigree


  • Genetic Markers