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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