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. 1976 Aug;13(4):295–306. doi: 10.1136/jmg.13.4.295

Chromosome survey of total population of mentally subnormal in North-East of Scotland.

R M Speed, A W Johnston, H J Evans
PMCID: PMC1013419  PMID: 134160

Abstract

A cytogenetic survey of the complete population of mentally subnormal in the North-East of Scotland has been undertaken. A register for the mentally subnormal within the region already existed, and all persons recorded, whether they resided at home or in subnormality hospitals or other institutional care, were included. The total number recorded was 3020 and of these 2770 were examined cytologically. In all 297 (10.7%) were shown to have a chromosomal abnormality, and of these Down's syndrome accounted for 250 (9%). Within this category was an unexpected excess of males. Deletions and supernumeraries comprised the remaining autosomal anomalies. Increased numbers of sex chromosome abnormalities among high grade mentally subnormal individuals were confirmed for both sexes. The survey has shown that abnormal chromosome complements contribute significantly to the causation of mental retardation, and has also provided estimates which cannot be obtained from hospital surveys alone.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BLANK C. E., GEMMELL E., CASEY M. D., LORD M. Mosaicism in a mother with a mongol child. Br Med J. 1962 Aug 11;2(5301):378–380. doi: 10.1136/bmj.2.5301.378. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Barr M. L., Sergovich F. R., Carr D. H., Saver E. L. The triplo-X female: an appraisal based on a study of 12 cases and a review of the literature. Can Med Assoc J. 1969 Sep 6;101(5):247–258. [PMC free article] [PubMed] [Google Scholar]
  3. Breg W. R., Steele M. W., Miller O. J., Warburton D., DeCapoa A., Allderdice P. W. The cri du chat syndrome in adolescents and adults: clinical finding in 13 older patients with partial deletion of the short arm of chromosome No. 5(5p-). J Pediatr. 1970 Nov;77(5):782–791. doi: 10.1016/s0022-3476(70)80236-0. [DOI] [PubMed] [Google Scholar]
  4. Brown W. M. Sex chromosome aneuploidy in man and its frequency, with special reference to mental subnormality and criminal behavior. Int Rev Exp Pathol. 1969;7:31–97. [PubMed] [Google Scholar]
  5. CHITHAM R. G., MACIVER E. A CYTOGENETIC AND STATISTICAL SURVEY OF 105 CASES OF MONGOLISM. Ann Hum Genet. 1965 Mar;28:309–315. doi: 10.1111/j.1469-1809.1964.tb00486.x. [DOI] [PubMed] [Google Scholar]
  6. COLLMANN R. D., STOLLER A. Data on mongolism in Victoria, Australia: prevalence and life expectation. J Ment Defic Res. 1963 Jun;7:60–68. doi: 10.1111/j.1365-2788.1963.tb00784.x. [DOI] [PubMed] [Google Scholar]
  7. Casey M. D., Blank C. E., McLean T. M., Kohn P., Street D. R., McDougall J. M., Gooder J., Platts J. Male patients with chromosome abnormality in two State hospitals. J Ment Defic Res. 1972 Sep-Dec;16(3):215–256. doi: 10.1111/j.1365-2788.1972.tb01177.x. [DOI] [PubMed] [Google Scholar]
  8. Challacombe D. N., Taylor A. Monosomy for a G autosome. Arch Dis Child. 1969 Feb;44(233):113–119. doi: 10.1136/adc.44.233.113. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Clark D. F., Johnston A. W. XYY individuals in a special school. Br J Psychiatry. 1974 Oct;125(0):390–396. doi: 10.1192/bjp.125.4.390. [DOI] [PubMed] [Google Scholar]
  10. DAY R. W., LARSON W., WRIGHT S. W. CLINICAL AND CYTOGENETIC STUDIES ON A GROUP OF FEMALES WITH XXX SEX CHROMOSOME COMPLEMENTS. J Pediatr. 1964 Jan;64:24–33. doi: 10.1016/s0022-3476(64)80313-9. [DOI] [PubMed] [Google Scholar]
  11. De Capoa A., Warburton D., Breg W. R., Miller D. A., Miller O. J. Translocation heterozygosis: a cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families. Am J Hum Genet. 1967 Jul;19(4):586–603. [PMC free article] [PubMed] [Google Scholar]
  12. Engel W., Reinwein H., Müller I., Kunze G. Chromosomenbefunde bei 365 Patienten mit Down-Syndrom oder Verdacht auf Down-Syndrom. Humangenetik. 1970;8(4):307–311. doi: 10.1007/BF00280329. [DOI] [PubMed] [Google Scholar]
  13. FORSSMAN H., AKESSON H. O. MORTALITY IN PATIENTS WITH DOWN'S SYNDROME. J Ment Defic Res. 1965 Jun;9:146–149. doi: 10.1111/j.1365-2788.1965.tb00831.x. [DOI] [PubMed] [Google Scholar]
  14. Fabia J., Drolette M. Life tables up to age 10 for mongols with and without congenital heart defect. J Ment Defic Res. 1970 Sep;14(3):235–242. doi: 10.1111/j.1365-2788.1970.tb01119.x. [DOI] [PubMed] [Google Scholar]
  15. Gardner R. J., Veale A. M., Parslow M. I., Becroft D. M., Shaw R. L., Fitzgerald P. H., Hutchings H. E., McCreanor H. R., Wong J., Eiby J. R. A survey of 972 cytogenetically examined cases of Down's syndrome. N Z Med J. 1973 Nov 14;78(502):403–409. [PubMed] [Google Scholar]
  16. Hongell K., Gripenberg U., Iivanainen M. Down's syndrome. Incidence of translocations in Finland. Hum Hered. 1972;22(1):7–14. doi: 10.1159/000152461. [DOI] [PubMed] [Google Scholar]
  17. Hunter H. A controlled study of the psychopathology and physical measurements of Klinefelter's syndrome. Br J Psychiatry. 1969 Apr;115(521):443–448. doi: 10.1192/bjp.115.521.443. [DOI] [PubMed] [Google Scholar]
  18. Innes G., Kidd C., Ross H. S. Mental subnormality in North-East Scotland. Br J Psychiatry. 1968 Jan;114(506):35–41. doi: 10.1192/bjp.114.506.35. [DOI] [PubMed] [Google Scholar]
  19. Jacobs P. A., Frackiewicz A., Law P. Incidence and mutation rates of structural rearrangements of the autosomes in man. Ann Hum Genet. 1972 Mar;35(3):301–319. doi: 10.1111/j.1469-1809.1957.tb01403.x. [DOI] [PubMed] [Google Scholar]
  20. Jacobs P. A., Melville M., Ratcliffe S., Keay A. J., Syme J. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet. 1974 May;37(4):359–376. doi: 10.1111/j.1469-1809.1974.tb01843.x. [DOI] [PubMed] [Google Scholar]
  21. Kaffe S., Hsu L. Y., Hirschhorn K. Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome. J Med Genet. 1974 Dec;11(4):378–379. doi: 10.1136/jmg.11.4.378. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Lindsjö A. Down's syndrome in Sweden. An epidemiological study of a three-year material. Acta Paediatr Scand. 1974 Jul;63(4):571–576. doi: 10.1111/j.1651-2227.1974.tb04849.x. [DOI] [PubMed] [Google Scholar]
  23. MOORE K. L., BARR M. L. Smears from the oral mucosa in the detection of chromosomal sex. Lancet. 1955 Jul 9;269(6880):57–58. doi: 10.1016/s0140-6736(55)92161-9. [DOI] [PubMed] [Google Scholar]
  24. Maclean N., Brown W. M., Jacobs P. A., Mantle D. J., Strong J. A. A survey of sex chromatin abnormalities in mental hospitals. J Med Genet. 1968 Sep;5(3):165–172. doi: 10.1136/jmg.5.3.165. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Matsunaga E., Tonomura A. Parental age and birth weight in translocation Down's syndrome. Ann Hum Genet. 1972 Nov;36(2):209–219. doi: 10.1111/j.1469-1809.1972.tb00770.x. [DOI] [PubMed] [Google Scholar]
  26. Mikkelsen M. Down's syndrome. Current stage of cytogenetic research. Humangenetik. 1971;12(1):1–28. doi: 10.1007/BF00291028. [DOI] [PubMed] [Google Scholar]
  27. Miller D. A., Warburton D., Miller O. J. Clusterine in deleted short-arm length among 25 cases with a Bp-chromosome. Cytogenetics. 1969;8(2):109–116. doi: 10.1159/000130028. [DOI] [PubMed] [Google Scholar]
  28. Moser H. W., Wolf P. A. The nosology of mental retardation: including the report of a survey of 1378 mentally retarded individuals at the Walter E. Fernald State School. Birth Defects Orig Artic Ser. 1971 Feb;7(1):117–134. [PubMed] [Google Scholar]
  29. Newton M. S., Cunningham C., Jacobs P. A., Price W. H., Fraser I. A. Chromosome survey of a hospital for the mentally subnormal. 2. Autosome abnormalities. Clin Genet. 1972;3(4):226–248. doi: 10.1111/j.1399-0004.1972.tb04271.x. [DOI] [PubMed] [Google Scholar]
  30. Newton M. S., Jacobs P. A., Price W. H., Woodcock G., Fraser I. A. A chromosome survey of a hospital for the mentally subnormal. 1. Sex chromosome abnormalities. Clin Genet. 1972;3(4):215–225. doi: 10.1111/j.1399-0004.1972.tb04270.x. [DOI] [PubMed] [Google Scholar]
  31. Niebuhr E. Localization of the deleted segment in the Cri-du-Chat syndrome. Humangenetik. 1972;16(4):357–358. doi: 10.1007/BF00283988. [DOI] [PubMed] [Google Scholar]
  32. Polani P. E. Autosomal imbalance and its syndromes, excluding down's. Br Med Bull. 1969 Jan;25(1):81–93. doi: 10.1093/oxfordjournals.bmb.a070675. [DOI] [PubMed] [Google Scholar]
  33. RECORD R. G., SMITH A. Incidence, mortality, and dex distribution of mongoloid defectives. Br J Prev Soc Med. 1955 Jan;9(1):10–15. doi: 10.1136/jech.9.1.10. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. Richards B. W. Mosaic mongolism. J Ment Defic Res. 1969 Mar;13(1):66–83. doi: 10.1111/j.1365-2788.1969.tb01067.x. [DOI] [PubMed] [Google Scholar]
  35. Richards B. W., Stewart A., Sylvester P. E., Jasiewicz V. Cytogenetic survey of 225 patients diagnosed clinically as mongols. J Ment Defic Res. 1965 Dec;9(4):245–259. doi: 10.1111/j.1365-2788.1965.tb00843.x. [DOI] [PubMed] [Google Scholar]
  36. Ross H. S., Innes G., Kidd C. Some observations on the prevalence of Down's syndrome. Scott Med J. 1967 Jul;12(7):260–263. doi: 10.1177/003693306701200705. [DOI] [PubMed] [Google Scholar]
  37. SCHACHENMANN G., SCHMID W., FRACCARO M., MANNINI A., TIEPOLO L., PERONA G. P., SARTORI E. CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA. Lancet. 1965 Aug 7;2(7406):290–290. doi: 10.1016/s0140-6736(65)92415-3. [DOI] [PubMed] [Google Scholar]
  38. SERGOVICH F. R., SOLTAN H. C., CARR D. H. TWELVE UNRELATED TRANSLOCATION MONGOLS: CYTOGENETIC, GENETIC AND PARENTAL AGE DATA. Cytogenetics. 1964;3:34–44. doi: 10.1159/000129796. [DOI] [PubMed] [Google Scholar]
  39. Sutherland G. R., Wiener S. Cytogenics of 271 mongols. Aust Paediatr J. 1972 Apr;8(2):90–91. doi: 10.1111/j.1440-1754.1972.tb01794.x. [DOI] [PubMed] [Google Scholar]
  40. Taysi K., Kohn G., Mellman W. J. Mosaic mongolism. II. Cytogenic studies. J Pediatr. 1970 Jun;76(6):880–885. doi: 10.1016/s0022-3476(70)80369-9. [DOI] [PubMed] [Google Scholar]
  41. Walzer S., Breau G., Gerald P. S. A chromosome survey of 2,400 normal newborn infants. J Pediatr. 1969 Mar;74(3):438–448. doi: 10.1016/s0022-3476(69)80202-7. [DOI] [PubMed] [Google Scholar]
  42. Warren R. J., Rimoin D. L. The G deletion syndromes. J Pediatr. 1970 Oct;77(4):658–663. doi: 10.1016/s0022-3476(70)80209-8. [DOI] [PubMed] [Google Scholar]
  43. Watson E. J., Gordon R. R. A case of partial trisomy 15. J Med Genet. 1974 Dec;11(4):400–402. doi: 10.1136/jmg.11.4.400. [DOI] [PMC free article] [PubMed] [Google Scholar]

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