Cytogenetic study of mentally retarded children in Taipei
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560 blood samples collected from mentally retarded children in Taipei were karyotypically analyzed for the incidence of fragile X and other chromosome abnormalities. The fragile site at Xq27.3 was observed in 18 patients (3.21%), 11 males and 7 females, out of the 560 blood cultures using M medium. Down syndrome (6.25%), 24 males and 11 females, was the other major category of abnormality. Other abnormalities, including inversion, translocation, deletion, duplication, ring as well as an extra marker chromosome were observed. The overall incidence of chromosomal abnormalities in these children was 14.82%.
Key WordsFragile X Chromosome abnormalities Mental retardation
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- 2.Coco R, Penchaszadeh UB. Frequencies of chromosome aberrations in 131 patients with multiple congenital malformations and mental retardation. J Pediatr 89:325;1976.Google Scholar
- 4.Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG, Warren ST, Oostra BA, Nelson DL, Caskey CT. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 67:1047–1058;1991.CrossRefPubMedGoogle Scholar
- 12.Pai JT, Tsai SF, Horng CJ, Chiu PC, Cheng MY, Hsiao HJ, Wuu KD. Detection of FMR-1 mutations with RNA samples extracted from filter papers. Hum Genet, in press.Google Scholar
- 14.Richards RI, Sutherland GR. Fragile X syndrome: The molecular picture comes into focus. Trends Genet 8:249–254;1992.Google Scholar
- 18.Sutherland GR, Wiener S. Chromosome studies in a mental deficiency hospital: Total ascertainment. Aust J Ment Res 1:246–247;1971.Google Scholar
- 22.Wuu KD, Wang-Wuu S, Liu IW. A cytogenetic survey of mentally retarded children in Taiwan: Final report on the incidence of chromosome abnormalities. Proc Natl Sci Counc Repub China [B] 8:83–88;1984.Google Scholar