| FRAGILE X MENTAL RETARDATION SYNDROME |
| A single high-lighting case: In a fragile X-negative mentally retarded male who presented with the clinical phenotype of the fragile X syndrome, Wohrle et al. (1992) found a deletion. Less than 250 kb of genomic DNA, including DXS548 and at least 5 exons of the FMR1 gene, was deleted. The data supported the hypothesis that loss of function of the FMR1 gene is responsible for the clinical phenotype of the fragile X syndrome. Utilizziamo l'STS DXS548 per localizzare sul genoma il locus legato alla malattia: DX - sequenza sul cromosoma X S 548 - STS numero 548 (STS = sequence-tagged site) |
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