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 language | English (US) |
|---|---|
| Pages (from-to) | 307-311 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics |
| Volume | 47 |
| Issue number | 3 |
| DOIs | |
| State | Published - 1993 |
Funding
The author would like to thank Drs. H. Ris, D. Parsons, E. D. Salmon, S. Brenner, and Ms. S. Nowogrodzki for their valuable comments and careful reading of this manuscript. 1 am grateful to the following scientists for supplying copies of their unpublished or published micrographs: Drs. S. Brenner, H. Eiberg, U. Euteneuer, J. R. McIntosh. Y. Moroi, D. Pepper, J. B. Rattner, H. Ris. U-P. Roos. M. J. Schibler, and M. J. Welsh. During the preparation of this article my work was supported by HRI Grant 65027 and BRS Grant 37007 awarded by the New York State Department of Health and by a Biotechnological Resource Grant PHS RR 01219 awarded by the Division of Research and Resources, D.H.H.S., to support the N.Y.S.D.H. (at Albany) High Voltage Electron Microscope.
Keywords
- X-linked mental retardation
- maternal kindred
- primary intellectual impairment
ASJC Scopus subject areas
- Genetics(clinical)