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.
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Authors | J Wei, B Chen, Y Jiang, Y Yang, Y Guo |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 47
Issue 3
Pg. 307-11
(Sep 01 1993)
ISSN: 0148-7299 [Print] United States |
PMID | 8135271
(Publication Type: Case Reports, Journal Article)
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Topics |
- Child
- Female
- Hand Deformities, Congenital
(genetics)
- Heterozygote
- Humans
- Intellectual Disability
(genetics)
- Male
- Muscle Hypotonia
(congenital, genetics)
- Pedigree
- Phenotype
- Syndrome
- X Chromosome
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