Two families with nonspecific X-linked mental retardation (XLMR) are presented. In the first family, MRX49, 5 male patients in 2 generations showed mild to moderate mental retardation. Two-point linkage analysis with 28 polymorphic markers, dispersed over the X-chromosome, yielded a maximal LOD scor
✦ LIBER ✦
Stocco dos Santos X-linked mental retardation syndrome: Clinical elucidation and localization to Xp11.3–Xq21.3
✍ Scribed by Stocco dos Santos, Rita C. ;Castro, Nelson H.C. ;Lillia Holmes, A. ;Beçak, Willy ;Tackels-Horne, Darci ;Lindsey, Charles J. ;Lubs, Herbert A. ;Stevenson, Roger E. ;Schwartz, Charles E.
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 70 KB
- Volume
- 118A
- Category
- Article
- ISSN
- 0148-7299
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An apparently new X-linked syndrome is presented. It occurred in four male first cousins. The main manifestations of this syndrome are severe mental retardation, bilateral congenital hip luxation, and short stature. Three of the affected males showed a new glucose-Sphosphate dehydrogenase variant.