Fragile X mutation and FG syndrome-like phenotype
- CHU Nord, Amiens (France); and others
We present data on 4 mentally retarded brothers, 2 of whom were dizygotic twins with congenital hypotonia, constipation, head size disproportionately large for length or height, and a combination of minor anomalies suggestive of FG syndrome. These brothers have a mentally retarded full sister with similar minor anomalies and an older half-brother with the Martin-Bell syndrome. The mother is mentally retarded; 4 of 7 individuals are positive for fragile X, but all have a CGG expansion ranging from 0.2-2 to 4 kb. Although the phenotype is not completely typical of the FG syndrome and the coincidence of the FMR1 mutation and segregation of the MCA/MR phenotype are highly unlikely, the FMR1 mutation may affect morphogenesis more extensively and differently than the Martin-Bell syndrome does to effect an FG syndrome-like phenotype in certain families. This phenotype does not appear to be a contiguous gene syndrome, but an effect of the FMR1 mutation on an adjacent gene must be considered. 18 refs., 4 figs.
- OSTI ID:
- 478896
- Journal Information:
- American Journal of Medical Genetics, Vol. 64, Issue 2; Other Information: PBD: 9 Aug 1996
- Country of Publication:
- United States
- Language:
- English
Similar Records
An atypical case of fragile X syndrome caused by a deletion that includes FMRI gene
Severe mental retardation and macroorchidism without mutation in the FMR1 gene