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Shashi XLMR syndrome: Report of a second family
Author(s) -
Castro Nelson H.C.,
Stocco dos Santos Rita C.,
Nelson Retecher,
Beçak Willy,
Hane Bernhard,
Lindsey Charles J.,
Lubs Herbert A.,
Stevenson Roger E.,
Schwartz Charles E.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10888
Subject(s) - hum , autosomal recessive inheritance , genetics , biology , gene , art , performance art , art history
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. © 2003 Wiley‐Liss, Inc.