2. Academic Validation
  3. Shashi XLMR syndrome: report of a second family

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.
Nelson H C Castro 1,  Rita C Stocco dos Santos,  Retecher Nelson,  Willy Beçak,  Bernhard Hane,  Charles J Lindsey,  Herbert A Lubs,  Roger E Stevenson,  Charles E Schwartz
Affiliations

Affiliation

  • 1 Laboratorio de Genetica, Instituto Butantan, Sao Paulo, Brazil.
PMID: 12605440 DOI: 10.1002/ajmg.a.10888
Abstract

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.

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