1.
Am J Med Genet
; 36(1): 122-5, 1990 May.
Article
in English
| MEDLINE
| ID: mdl-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%.