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| Mingroni-Netto,Regina C.; Pavanello,Rita C.M.; Otto,Paulo A.; Vianna-Morgante,Angela M.. |
| We report on the cytogenetic and DNA analysis of 55 families with the fragile X (FMR-1 locus) mutation (318 individuals and 15 chorionic villi samples). A total of 129 males were investigated, 54 mentally normal and 75 presenting mental retardation. Among the 54 normal males, 11 had the premutation, and none expressed the fragile site. The full mutation was detected in 73 retarded males, and 14 (18%) presented a premutation along with the full mutation (mosaics). All of them manifested the fragile site. The frequencies of fragile site expression correlated positively with the sizes of the expansion of the CGG repeats (<FONT FACE="Symbol">D</FONT>). Among 153 normal females, 85 were found to be heterozygous for the premutation and 15 had the... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 1997 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000400028 |
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