Smith-Fineman-Myers syndrome: Report on a large family

J. Wei*, B. Chen, Y. Jiang, Y. Yang, Y. Guo

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

Smith-Fineman-Myers syndrome is considered an X-linked mental retardation (XLMR) syndrome. Three families have been reported to date. However, none presented a typical pattern of X-linked inheritance. Here we reported on 5 males with Smith-Fineman-Myers syndrome with similar phenotypic expression as in those cases reported previously; they were distributed in 4 sibships of one large maternal kindred. This finding adds strong support to the hypothesis of the Smith-Fineman-Myers syndrome being a rare XLMR syndrome.

Original languageEnglish (US)
Pages (from-to)307-311
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume47
Issue number3
DOIs
StatePublished - Jan 1 1993

Keywords

  • X-linked mental retardation
  • maternal kindred
  • primary intellectual impairment

ASJC Scopus subject areas

  • Genetics(clinical)

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