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