OMIM: 300624Inheritance: X-linked dominant
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | FMR1 |
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| Dna Change: | (CGG)n EXPANSION |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Cyprus | Hellenic | NA | NA | NA | Syrrou M et al., 1996Syrrou M, Patsalis PC, Georgiou I, Hadjimarcou MI, Constantinou-Deltas CD, Pagoulatos G, . Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus.. Am. J. Med. Genet.. 1996; 64(1):234-8 |
| Greece | Hellenic | NA | NA | NA | Syrrou M et al., 1996Syrrou M, Patsalis PC, Georgiou I, Hadjimarcou MI, Constantinou-Deltas CD, Pagoulatos G, . Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus.. Am. J. Med. Genet.. 1996; 64(1):234-8 |
| Tunisia | Jews | NA | 20% | NA | Falik-Zaccai TC et al., 1997Falik-Zaccai TC, Shachak E, Yalon M, Lis Z, Borochowitz Z, Macpherson JN, Nelson DL, Eichler EE, . Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype.. Am. J. Hum. Genet.. 1997; 60(1):103-12 |
References
Falik-Zaccai TC, Shachak E, Yalon M, Lis Z, Borochowitz Z, Macpherson JN, Nelson DL, Eichler EE, Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype.Am. J. Hum. Genet.. 1997; 60(1):103-12
Syrrou M, Patsalis PC, Georgiou I, Hadjimarcou MI, Constantinou-Deltas CD, Pagoulatos G, Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus.Am. J. Med. Genet.. 1996; 64(1):234-8