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  • Title: Two brothers with mental retardation discordant for the fragile-X syndrome.
    Author: Van Roy BC, Willems PJ, Vits LJ, Ceulemans BP, Coucke PJ, Van der Auwera BJ, Lormans JA, Dumon JE.
    Journal: Am J Med Genet; 1990 May; 36(1):122-5. PubMed ID: 2333901.
    Abstract:
    We describe two male sibs with mental retardation discordant for the fragile-X syndrome. In the younger sib, chromosome analysis under folate deprivation showed a fragile site at Xq27.3 in 12-46% of mitoses. In the older sib, however, repeated chromosome analyses (six different cultures with analysis of 50 mitoses each) under identical conditions could not detect any fragile-X site. Using DNA probes linked to the fragile-X gene, we found evidence that the two sibs inherited a different maternal X chromosome at Xq27.3. This excluded the presence of the fragile-X syndrome in the older sib with a probability of greater than 99%.
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