title: Shashi XLMR syndrome: report of a second family.
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.
authors.affiliation: Laboratorio de Genetica, Instituto Butantan, Sao Paulo, Brazil.
authors.forename: Nelson H C
authors.initials: NH
authors.lastname: Castro
authors.forename: Rita C Stocco
authors.initials: RC
authors.lastname: dos Santos
authors.forename: Retecher
authors.initials: R
authors.lastname: Nelson
authors.forename: Willy
authors.initials: W
authors.lastname: Beçak
authors.forename: Bernhard
authors.initials: B
authors.lastname: Hane
authors.forename: Charles J
authors.initials: CJ
authors.lastname: Lindsey
authors.forename: Herbert A
authors.initials: HA
authors.lastname: Lubs
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
mesh_terms: D000328:Adult; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D010375:Pedigree
chemical_list: D005819:Genetic Markers