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J Med Genet. Mar 1998; 35(3): 177–182.
PMCID: PMC1051238

Recurrence risks in mental retardation.


Despite improvements in diagnostic techniques and progress made in mapping genes associated with syndromal mental handicap, the estimation of recurrence risks in non-syndromal mental retardation is still dependent on empirical data. Unfortunately, few studies are available to guide the clinician and their results differ significantly. For example, recurrence risks to all sibs of a male index patient with severe mental retardation vary between 3.5% and 14% in commonly quoted series. The present review highlights the problems involved in interpreting the previous work in this area and discusses the definition of mental retardation according to the degree of severity, phenotype, and its pattern of inheritance. In planning future studies, an appreciation of these issues should allow us to derive accurate and comparable risk figures for use in counselling affected subjects and their families.

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Selected References

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  • Reid AH. Mental handicap or learning disability. A critique of political correctness. Br J Psychiatry. 1997 Jan;170:1–1. [PubMed]
  • Lamont MA, Dennis NR. Aetiology of mild mental retardation. Arch Dis Child. 1988 Sep;63(9):1032–1038. [PMC free article] [PubMed]
  • Bundey S, Thake A, Todd J. The recurrence risks for mild idiopathic mental retardation. J Med Genet. 1989 Apr;26(4):260–266. [PMC free article] [PubMed]
  • Bundey S, Webb TP, Thake A, Todd J. A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology. J Med Genet. 1985 Aug;22(4):258–266. [PMC free article] [PubMed]
  • Roeleveld N, Zielhuis GA, Gabreëls F. The prevalence of mental retardation: a critical review of recent literature. Dev Med Child Neurol. 1997 Feb;39(2):125–132. [PubMed]
  • Simonoff E, Bolton P, Rutter M. Mental retardation: genetic findings, clinical implications and research agenda. J Child Psychol Psychiatry. 1996 Mar;37(3):259–280. [PubMed]
  • Yeargin-Allsopp M, Murphy CC, Cordero JF, Decouflé P, Hollowell JG. Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987. Dev Med Child Neurol. 1997 Mar;39(3):142–149. [PubMed]
  • Mitchell S, Bundey S. Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy. Clin Genet. 1997 Jan;51(1):7–14. [PubMed]
  • Pilz DT, Quarrell OW. Syndromes with lissencephaly. J Med Genet. 1996 Apr;33(4):319–323. [PMC free article] [PubMed]
  • Opitz JM, Kaveggia EG, Durkin-Stamm MV, Pendleton E. Diagnostic/genetic studies in severe mental retardation. Birth Defects Orig Artic Ser. 1978;14(6B):1–38. [PubMed]
  • Majnemer A, Shevell MI. Diagnostic yield of the neurologic assessment of the developmentally delayed child. J Pediatr. 1995 Aug;127(2):193–199. [PubMed]
  • Smalley SL, Asarnow RF, Spence MA. Autism and genetics. A decade of research. Arch Gen Psychiatry. 1988 Oct;45(10):953–961. [PubMed]
  • Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet. 1995 Feb;9(2):132–140. [PubMed]
  • Ledbetter DH. Minireview: cryptic translocations and telomere integrity. Am J Hum Genet. 1992 Sep;51(3):451–456. [PMC free article] [PubMed]
  • Turner G, Turner B. X-linked mental retardation. J Med Genet. 1974 Jun;11(2):109–113. [PMC free article] [PubMed]
  • Herbst DS, Baird PA. Sib risks for nonspecific mental retardation in British Columbia. Am J Med Genet. 1982 Oct;13(2):197–208. [PubMed]
  • Herbst DS, Miller JR. Nonspecific X-linked mental retardation II: the frequency in British Columbia. Am J Med Genet. 1980;7(4):461–469. [PubMed]
  • Morton NE, Rao DC, Lang-Brown H, Maclean CJ, Bart RD, Lew R. Colchester revisited: a genetic study of mental defect. J Med Genet. 1977 Feb;14(1):1–9. [PMC free article] [PubMed]
  • Bundey S, Carter CO. Recurrence risks in severe undiagnosed mental deficiency. J Ment Defic Res. 1974 Jun;18(2):115–134. [PubMed]
  • Morton JE, Bundey S, Webb TP, MacDonald F, Rindl PM, Bullock S. Fragile X syndrome is less common than previously estimated. J Med Genet. 1997 Jan;34(1):1–5. [PMC free article] [PubMed]
  • Costeff H, Weller L. The risk of having a second retarded child. Am J Med Genet. 1987 Aug;27(4):753–766. [PubMed]
  • Turner G, Webb T, Wake S, Robinson H. Prevalence of fragile X syndrome. Am J Med Genet. 1996 Jul 12;64(1):196–197. [PubMed]
  • Slaney SF, Wilkie AO, Hirst MC, Charlton R, McKinley M, Pointon J, Christodoulou Z, Huson SM, Davies KE. DNA testing for fragile X syndrome in schools for learning difficulties. Arch Dis Child. 1995 Jan;72(1):33–37. [PMC free article] [PubMed]
  • Stevenson RE, Häne B, Arena JF, May M, Lawrence L, Lubs HA, Schwartz CE. Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation. J Med Genet. 1997 Jun;34(6):465–469. [PMC free article] [PubMed]
  • Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G. XLMR genes: update 1996. Am J Med Genet. 1996 Jul 12;64(1):147–157. [PubMed]
  • Bartley JA, Hall BD. Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similarly affected sibs of the proband. Birth Defects Orig Artic Ser. 1978;14(6B):127–137. [PubMed]
  • Young ID, Nugent Z, Grimm T. Autosomal recessive or sex linked recessive: a counselling dilemma. J Med Genet. 1986 Feb;23(1):32–34. [PMC free article] [PubMed]
  • Ghaffari SR, Boyd E, Tolmie JL, Crow YJ, Trainer AH, Connor JM. A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. J Med Genet. 1998 Mar;35(3):225–233. [PMC free article] [PubMed]

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