Table 1 Description of the patients included in the study
Patient | Family | Linkage data | Phenotype |
|---|---|---|---|
P1, P2 | XLMR family (F.K., now MRX79) | chromosome X | X-linked mental retardation |
P3, P4 | MRXS10 | Xp11.21-Xp11.4 | Mental retardation, choreoathetosis, abnormal behavior |
P5 | XLMR family (F.K.) | Chromosome X, pericentromeric | Non-syndromic mental retardation |
P6 | MRX9 | Xp11.22-Xp11.4 | Non-syndromic mental retardation |
P7 | MRX10 | Xp11.3-Xp21.2 | Non-syndromic mental retardation |
P8 | MRX11 | Xp11.3-Xp21.2 | Non-syndromic mental retardation |
P9 | MRX12 | Xp11.21-Xp21.2 | Non-syndromic mental retardation |
P10 | MRX18 | Xp11.3-Xp21.2 | Non-syndromic mental retardation |
P11 | XLMR family with epilepsy | Xp11.23-Xp22.22 | Non-syndromic mental retardation, epilepsy |
P12 | MRXS family (J.G.) | Xp21.3-Xq21.3 | Non-syndromic mental retardation |
P13 | XLMR family with macrocephaly (J.G.) | Xp11.4-Xq13.1 | Macrocephaly, moderate to profound mental retardation |
P14 | XLMR family (C.S.) | Xp11.3-Xp21.1 | Seizures, ataxia, aggressive and hyperactive behavior, speech delay, mild to moderate mental retardation |
P15 | MRXS (C.S.) | Xp22.22-Xq24 | Macrocephaly, prominent ears and moderate to severe mental retardation |
P16 | MRX56 | Xp11.21-Xp21.1 | Non-syndromic mental retardation |