Shashi XLMR syndrome: Report of a second family
Castro, Nelson H C
Stocco, Rita de Cassia
Lindsey, Charles Julian [UNIFESP]
Lubs, Herbert A.
Stevenson, Roger E.
Schwartz, Charles E.
Is part ofAmerican Journal of Medical Genetics Part A
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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. (C) 2003 Wiley-Liss, Inc.
CitationAmerican Journal of Medical Genetics Part A. New York: Wiley-liss, v. 118A, n. 1, p. 49-51, 2003.
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