Summary
A cytogenetic study was made on 341 mentally retarded children in the Provincial Nantou Rehabilitation Center for the Mentally Retarded and the St. Raphael Opportunity Center in Tainan. Of the 89 mentally retarded children with chromosomal abnormalities, 63 had Down syndrome, 13 had the fragile X [fra(X)] syndrome, and the remaining had other aneuploid constitutions. Family studies were possible for 2 of the 13 fra(X) probands. The results of this study illustrate the contribution of chromosomal abnormalities to the pathogenesis of mental retardation in children.
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References
Ally FE, Grace HJ (1979) Chromosome abnormalities in South African mental retarded. S Afr Med J 55:710–712
Alter M, Gorlin R, Yunis J, Peagler F, Bruhl H (1966) Dermatoglyphics in XXYY Klinefelter's syndrome. Am J Hum Genet 18: 507–513
Barlow P (1973) The influence of inactive chromosomes on human development. Humangenetik 17:105–136
Beckmann J, Dupont A, Erling I, Jacobsen P, Mikklsen M, Theilgaard A (1974) Report of sex chromosome abnormalities in mentally retarded male offenders including a psychological study of patients with XYY and XXYY karyotypes. J Ment Defic Res 18: 331–353
Breg WR (1977) Euploid structural rearrangements in the mentally retarded. In: Hook EB, Porter IH (eds) Population cytogenetics-studies in humans. Academic Press, New York London, pp 99–102
Breg WR, Miller DA, Allerdice PW, Miller OJ (1972) Identification of translocation chromosomes by quinacrine fluorescence. Am J Dis Child 12:561–564
Carpenter NJ, Leichtman LG, Say B (1982) Fragile X-linked mental retardation. Am J Dis Child 136:392–398
Casey MD, Segall LJ, Street DRK, Blank CE (1966) Sex chromosome abnormalities in two state hospitals for patients requiring special security. Nature 209:641–642
Chudley AE, Knoll J, Gerrard JW, Shepel L, McGahey E, Anderson J (1983) Fragile X-linked mental retardation. I. Relationship between age and intelligence and the frequency of expression of fragile(X) (q27.3). Am J Med Genet 14:699–712
Fryns JP, Van den Berghe H (1983) X-linked mental retardation and fragile (Xq27) site. Clin Genet 23:203–207
Fryns JP, Kleczkowska A, Kubien E, Van den Berghe H (1984) Cytogenetic findings in moderate and severe mental retardation — a study of an institutionalized population of 1991 patients. Acta Paediatr Scand [Suppl] 313:1–23
Glover TW (1981) FudR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition. Am J Hum Genet 33:234–242
Gripenberg U, Hongell K, Knuutila S, Kahkonen M, Leist J (1980) A chromosome survey of 1062 mentally retarded patients. Evaluation of a long-term study at the Rinnekoti Institution, Finland. Hereditas 92:223–228
Hook EB, Hamerton JL (1977) The frequency of chromosome abnormalities detected in consecutive newborn studies — difference between studies — results by sex and severity of phenotypic involvement. In: Hook EB, Porter IH (eds) Population cytogenetics — studies in humans. Academic Press, New York London, pp 63–79
Jacobs PA (1974) Correlation between euploid structural chromosome rearrangements and mental subnormality in humans. Nature 249:164–165
Jacobs PA, Price WH, Court Brown WM, Brittain RP, Whatmore PB (1968) Chromosome studies on man in a maximum security hospital. Ann Hum Genet 31:339–358
Jacobs PA, Matsurra JS, Mayer M, Newlands IM (1978) A cytogenetic survey of an institution for the mentally retarded. I. Chromosome abnormalities. Clin Genet 13:37–60
Kakhonen M, Leisti J, Wilska M, Varonen S (1983) Marker X-associated mental retardation. A study of 150 retarded males. Clin Genet 24:397–404
Li SY, Jou TC, Chow MC (1983) A chromosomal study on mentally retarded children in the Taichung area. Proc Natl Sci Counc Repub China [B] 7:474–480
Li SY, Jong RH, Chow MC, Jou TC (1984) Double balanced de novo translocations involving chromosome 4/15 and 5/12 in a mentally retarded boy. Proc Natl Sci Counc Repub China [B] 8:54–59
Maclean N, Mitchell JM, Harnden DG, Williams J, Jacobs PA, Backton KD, Baikie AG, Court Brown WM, McBride JA, Strong JA, Close HG, Jones DC (1962) A survey of sex chromosome abnormalities among 4,514 mental defectives. Lancet I:293–296
Mattei MG, Mattei JF, Vidal I, Girand F (1981) Expression in lymphocyte and fibroblast culture of the fragile X chromosome — a new technical approach. Hum Genet 59:166–169
Nielsen KB, Dyggve HV, Kundsen H, Olsen JA (1983) A chromosomal survey of an institution for the mentally retarded. Dan Med Bull 30:5–13
Penrose LS (1932) On the interaction of heredity and environment in the study of human genetics (with special reference to Mongolian imbecility). J Genet 25:407–422
Pitt D, Roboz P, Seidurs E (1972) The spectrum of severe mental deficiency. Experiences with 1400 cases. Aust J Ment Retard 2:40–46
Silverman W, Lubin R, Jenkins E, Brown WT (1983) The strength of association between fragile(X) chromosome presence and mental retardation. Clin Genet 23:436–440
Sorensen J, Nielsen J, Jacobsen P, Rolle T (1978) The 48,XXYY syndrome. J Ment Defic Res 22:197–205
Speed RM, Johnston AW, Evans HJ (1976) Chromosome survey of total population of mentally subnormal in North-East of Scotland. J Med Genet 13:295–306
Sutherland GR (1982) Heritable fragile sites on human chromosomes VIII: preliminary population cytogenetic data on the folic acidsensitive fragile sites. Am J Hum Genet 34:452–458
Sutherland GR, Murch AR, Gardiner AJ, Carter RF, Wizeman C (1976) Cytogenetic survey of a hospital for the mentally retarded. Hum Genet 34:231–245
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Li, SY., Tsai, CC., Chou, MY. et al. A cytogenetic study of mentally retarded school children in taiwan with special reference to the fragile X chromosome. Hum Genet 79, 292–296 (1988). https://doi.org/10.1007/BF00282163
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DOI: https://doi.org/10.1007/BF00282163