Other Genetic Disorders

  • Russell H. Jackson


The four disorders to be discussed in this chapter (phenylketonuria, Turner’s Syndrome, Klinefelter’s Syndrome, and Huntington’s Disease) were chosen because of their clinical interest, their frequency of occurrence, and their differing modes of inheritance. These four disorders also are representative of genetic conditions that differ in severity, ease of diagnosis, age of onset of symptoms, and impact on the family. Additionally, current issues in the field of genetic counseling and the psychological problems relating to genetic disease are discussed. Before discussion of the specific disorders, some more general information will be reviewed.


Genetic Counseling Genetic Disorder Dietary Control Gonadal Dysgenesis Mental Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Acosta, P. B., & Elsas, L. J. Dietary management of inherited metabolic disease. Atlanta, Georgia: ACELM Publishers, 1975.Google Scholar
  2. Acosta, P. B., Fiedler, J. L., & Koch, R. Mothers’ dietary management of PKU children. Journal of the American Dietetic Association, 1968, 53, 460–464.Google Scholar
  3. Acosta, P. B., Wenz, E., & Williamson, M. Nutrient intake of treated infants with Phenylketonuria. American Journal of Clinical Nutrition, 1977, 30, 198–208.Google Scholar
  4. Ad hoc committee on genetic counseling. Genetic counseling. American Journal of Human Genetics, 1975, 26, 240–242.Google Scholar
  5. Allen, R. J., & Gibson, R. M. Phenylketonuria with normal intelligence. American Journal of Diseases in Childhood, 1961, 102, 115–122.Google Scholar
  6. Anderson, V., Siegel, E., & Bruhl, H. Behavioral and biochemical correlates of diet change in phenylketonuria. Pediatric Research, 1976, 10, 10–17.Google Scholar
  7. Armstrong, M. D., & Tyler, F. H. Studies on phenylketonuria. 1. Restricted phenylalanine intake in phenylketonuria. Journal of Clinical Investigation, 1955, 34, 565–580.Google Scholar
  8. Bartholome, K., Byrd, D. J., Kaufman, S., & Milstein, S. Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro. Pediatrics, 1977, 59, 757–761.Google Scholar
  9. Baumeister, A. A. The effects of dietary control on intelligence in phenylketonuria. American Journal of Mental Deficiency, 1967, 71, 840–847.Google Scholar
  10. Beals, R. K. Orthopedic aspects of the X0 (Turner’s Syndrome). Clinical Orthopedics and Related Research, 1973, 97, 19–30.Google Scholar
  11. Beckner, A. S., Centerwall, W. R., & Holt, L. Effects of rapid increase of phenylalanine intake in older phenylketonuria children. Journal of the American Dietetic Association, 1976, 69, 148–151.Google Scholar
  12. Berman, J. L., & Ford, R. Intelligence quotient and intelligence loss in patients with phenylketonuria and some variant states. Journal of Pediatrics, 1970, 77, 764–770.Google Scholar
  13. Berman, P. W., Waisman, H. A., & Graham, F. K. Intelligence in treated phenylketonuria children: A developmental study. Child Development, 1966, 37, 731–747.Google Scholar
  14. Berry, H. K., O’Grady, D. J., Perlmutter, L. J., & Bofinger, M. K. Intellectual development and academic achievement of children treated early for phenylketonuria. Developmental Medicine and Child Neurology, 1979, 21, 311–320.Google Scholar
  15. Bickel, H., Gerrard, J., & Hickmans, E. M. The influence of phenylalanine intake on phenylketonuria. Lancet, 1953, 2, 812–813.Google Scholar
  16. Binder, J., Johnson, C. F., Saboe, B., & Krug-Wispe, S. Delayed elevation of serum phenylalanine level in breast-fed children. Pediatrics, 1979, 63, 334–336.Google Scholar
  17. Binswanger, C. Physical therapy as possible modality used to extend the creative functional lives of patients with Huntington’s Disease: A pilot study. In HD Handbook for health professionals. New York: Committee to Combat Huntington’s Disease, 1973.Google Scholar
  18. Buist, N. R., Lis, E. W., Tuerck, J. M., & Murphy, W. H. Maternal phenylketonuria. Lancet, 1979, 2, 589.Google Scholar
  19. Butters, N., Sax, D., Montgomery, K., & Tarlow, S. Comparison of the neuropsychological deficits associated with early and advanced Huntington’s Disease. Archives of Neurology, 1978, 35, 585–589.Google Scholar
  20. Caine, E. D., Hunt, R. D., Weingartner, H., & Ebert, M. H. Huntington’s dementia: Clinical and neuropsychological features. Archives of General Psychiatry, 1978, 35, 377–384.Google Scholar
  21. Chiu, E., & Teltscher, B. Huntington’s Disease: The establishment of a national register. The Medical Journal of Australia, 1978, 2, 394–396.Google Scholar
  22. Cole, W. Marjorie Guthrie’s fight against her husband’s killer. Good Housekeeping, 1973, 176, 64–67.Google Scholar
  23. Commission for the Control of Huntington’s Disease and its Consequences. Report: Vol. I-Overview, DHEW Pub. No. (NIH) 78-1501. Bethesda, Md.: National Institutes of Health, 1977.Google Scholar
  24. Committee to Combat Huntington’s Disease. A decade of progress and hope, 1967–1977. New York: Committee to Combat Huntington’s Disease, 1977.Google Scholar
  25. Committee to Combat Huntington’s Disease. Newsletter No. 27, Spring, 1980.Google Scholar
  26. Court-Brown, W. M., & Smith, P. G. Human population cytogenetics. British Medical Bulletin, 1969, 25, 74–80.Google Scholar
  27. Cunningham, G. C., & Day, R. Phenylalanine tolerance tests in families with phenylketonuria and hyperphenylalaninemia. American Journal of Diseases in Childhood, 1969, 117, 626–635.Google Scholar
  28. Dobson, J. D., Kushida, E., Williamson, M., & Friedman, E. G. Intellectual performance of 36 phenylketonuria patients and their non-affected siblings. Pediatrics, 1976, 50, 53–56.Google Scholar
  29. Eldridge, R., O’Meara, K., Chase, T. N., & Donnelly, E. F. Offspring of consanguineous parents with Huntington’s Chorea. In A. Barbeau, T. N. Chase, & G. W. Paulson (Eds.), Advances in Neurology (Vol. 1). New York: Raven Press, 1973.Google Scholar
  30. Ferguson-Smith, M. A. Sex chromatin, Klinefelter’s syndrome, and mental deficiency. In K. L. Moore (Ed.), The sex chromatin. Philadelphia: W. B. Saunders, 1966.Google Scholar
  31. Fisch, R. O., Conley, J. A., Eysenbach, S., & Chang, P. Contact with phenylketonurics and their families beyond pediatric age: Conclusion from a survey and conference. Mental Retardation, 1977, 15, 10–12.Google Scholar
  32. Fisch, R. O., Solberg, J. A., & Borud, L. Responses of children with phenylketonuria to dietary treatment. Journal of the American Dietetic Association, 1971, 58, 32–37.Google Scholar
  33. Foiling, A. Phenylpyruvic acid as a metabolic anomaly in connection with imbecility. Zeitschrift für physiologische Chemie, 1934, 227, 169–176.Google Scholar
  34. Ford, C. E., Jones, K. W., Polani, P. E., de Almeida, F. C., & Briggs, F. H. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner’s Syndrome). Lancet, 1959, 1, 711–713.Google Scholar
  35. Ford, E. H. R. Abnormalities of the sex chromosomes (Chapter 10). Human chromosomes. New York: Academic Press, 1973.Google Scholar
  36. Frankenburg, W. K., Goldstein, A. D., & Olson, C. O. Behavioral consequences of increased phenylalanine intake by phenylketonuria children: A pilot study describing methodology. American Journal of Mental Deficiency, 1973, 77, 524–532.Google Scholar
  37. Fuller, R., & Shuman, J. Treated phenylketonuria. Intelligence and blood phenylalanine levels. American Journal of Mental Deficiency, 1971, 75, 539–545.Google Scholar
  38. Funderburk, S. J., & Ferjo, N. Clinican observations in Klinefelter’s (47,XXY) syndrome. Journal of Mental Deficiency Research, 1978, 22, 207–212.Google Scholar
  39. Garron, D. Intelligence among persons with Turner’s Syndrome. Behavior Genetics, 1977, 7, 105–127.Google Scholar
  40. Goldberg, S. Social competence in infancy: A model of parent-infant interaction. Merrill-Palmer Quarterly, 1977, 23, 163–175.Google Scholar
  41. Guthrie, R. Blood screening for phenylalanine. Journal of the American Medical Association, 1961, 178, 863–868.Google Scholar
  42. Hackney, J. M., Hanley, W. B., Davidson, W., & Lindsao, L. Phenylketonuria: Mental development, behavior and termination of low phenylalanine diet. Journal of Pediatrics, 1968, 72, 646–655.Google Scholar
  43. Hans, M. B., & Gilmore, T. H. Social aspects of Huntington’s Chorea. British Journal of Psychiatry, 1968, 114, 93–98.Google Scholar
  44. Harmetz, A. Must they sacrifice today because of threatened tomorrows? Today’s Health, 1971, 49, 44–47.Google Scholar
  45. Hecht, F., Wyandt, H. E., & Magenis, R. E. H. The human cell nucleus: Quinacrine and other differential stains in the study of chromatin and chromosomes. In The cell nucleus (Vol. 2). New York: Academic Press, 1974.Google Scholar
  46. Holtzman, N. A., Mellits, E. D., & Kallman, C. H. Neonatal screening for PKU II: Age dependence of initial phenylalanine in infants with PKU. Pediatrics, 1974, 53, 353–357.Google Scholar
  47. Holtzman, N. A., Welcher, D. W., & Mellits, E. D. Termination of restricted diet in children with PKU: A randomized controlled study. New England Journal of Medicine, 1975, 293, 1121–1124.Google Scholar
  48. Hsia, D. Y. Y. Phenylketonuria. Developmental Medicine and Child Neurology, 1967, 9, 531–540.Google Scholar
  49. Hsia, D., Knox, W. G., Quinn, K. V., & Paine, R. S. A one-year controlled study of the effect of low phenylalanine diet on phenylketonuria. Pediatrics, 1958, 21, 178–202.Google Scholar
  50. Huntington, G. On chorea. The Medical and Surgical Reporter, 1872, 26, 320–321.Google Scholar
  51. Johnson, C. F. Phenylketonuria: A diagnosis that affects the entire family. Medical Times, 1979, 107, 37–40.Google Scholar
  52. Kang, E. S., Kennedy, J. L., Gates, L., Burwash, I., & McKinnon, A. Clinical observations in PKU. Pediatrics, 1965, 35, 932–943.Google Scholar
  53. Kang, E. S., Sollee, N. D., & Gerald, P. S. Results of treatment and termination of diet in phenylketonuria. Pediatrics, 1970, 46, 881–889.Google Scholar
  54. Keleske, L., Solomons, G., & Opitz, E. Parental reactions to PKU in the family. Journal of Pediatrics, 1967, 70, 793–798.Google Scholar
  55. Kenen, R. H., & Schmidt, R. M. Stigmatization of carrier status: Social implications of heterozygote genetic screening programs. American Journal of Public Health, 1978, 68, 1116–1120.Google Scholar
  56. Kennedy, J. L., Wertleki, W., Gales, L., Sperry, B. P., & Cass, V. M. The early treatment of PKU. American Journal of Diseases in Childhood, 1967, 113, 16–21.Google Scholar
  57. Kessler, S. The psychological foundations of genetic counseling. In S. Kessler (Ed.), Genetic counseling: psychological dimensions. New York: Academic Press, 1979.Google Scholar
  58. King, C. R., Magenis, E., & Bennett, S. Pregnancy and the Turner Syndrome. Obstetrics and Gynecology, 1978, 52, 617–624.Google Scholar
  59. Kirkman, H. N. Single-gene disorders. Pediatric Annals, 1978, 7, 69.Google Scholar
  60. Kleinman, D. S. Phenylketonuria: A review of some deficits in our information. Pediatrics, 1964, 33, 123–133.Google Scholar
  61. Knox, W. E. An evaluation of treatment of phenylketonuria with diets low in phenylalanine. Pediatrics, 1960, 26, 1–11.Google Scholar
  62. Koch, R., Fishier, K., Schild, S., & Ragsdale, N. Clinical aspects of PKU. Mental Retardation, 1964, 2, 47–54.Google Scholar
  63. Koch, R., Shaw, K. N. F., Acosta, P. B., Fischler, K., Schaffly, G., Wenz, E., & Wohlers, A. An approach to the management of PKU. Journal of Pediatrics, 1970, 76, 815–828.Google Scholar
  64. Koff, E., Boyle, P., & Pueschel, S. Perceptual-motor functioning in children with PKU. American Journal of Diseases in Childhood, 1977, 13, 1084–1087.Google Scholar
  65. Komrower, M., Saroharwalla, I. B., Coutts, J. M. J., & Ingham, D. Management of maternal phenylketonuria: An emerging clinical problem. British Medical Journal, 1979, 1, 1383–1387.Google Scholar
  66. La Franchi, S. Personal Communication. September, 1980.Google Scholar
  67. Langdell, J. I. PKU: Eight year evaluation of treatment. Archives of General Psychiatry, 1965, 12, 363–367.Google Scholar
  68. Lemli, L., & Smith, D. W. The X0 syndrome: A study of the differentiated phenotype in 25 patients. Journal of Pediatrics, 1963, 63, 577–588.Google Scholar
  69. Leonard, C. O., Chase, G. A., & Childs, B. Genetic counseling: A consumer’s view. New England Journal of Medicine, 1972, 287, 433–439.Google Scholar
  70. Lowe, T. L., Tanaka, K., Seashore, M. R., Young, G. J., & Cohen, D. Detection of phenylketonuria in autistic and psychotic children. Journal of the American Medical Association, 1980, 243, 126–128.Google Scholar
  71. Lyle, O. E., & Gottesman, I.I. Premorbid psychometric indicators of the gene for Huntington’s Disease. Journal of Consulting and Clinical Psychology, 1977, 45, 1011–1022.Google Scholar
  72. Mabry, C. C., Denniston, J. C., & Caldwell, J. G. Mental retardation in children of PKU mothers. New England Journal of Medicine, 1966, 275, 1331.Google Scholar
  73. McKusick, V. A. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes (5th ed.). Baltimore: Johns Hopkins Press, 1978.Google Scholar
  74. Menkes, J. H. The pathogenesis of mental retardation in phenylketonuria and other inborn errors of amino acid metabolism. Pediatrics, 1967, 39, 297–308.Google Scholar
  75. Menkes, J. H. Summary of a workshop on Huntington’s Disease sponsored by the Committee to Combat Huntington’s Disease. Pacific Palisades, Calif., March 12–13, 1971.Google Scholar
  76. Moen, J. L., Wilcox, R. D., & Burns, J. K. PKU as a factor in the development of self-esteem. Behavioral Pediatrics, 1977, 90, 1027–1029.Google Scholar
  77. Money, J. Psychologic findings associated with the X0, XXY, and XYY anomalies. Southern Medical Journal, 1971, 64 (Supplement No. 1), 59–64.Google Scholar
  78. Money, J., Klein, A., & Beck, J. Applied behavioral genetics: Counseling and psychotherapy in sex-chromosomal disorders. In S. Kessler (Ed.), Genetic counseling, psychological dimensions. New York: Academic Press, 1979.Google Scholar
  79. Money, J., & Mittenthal, S. Lack of personality pathology in Turner’s syndrome: Relation to cytogenetics, hormones and physique. Behavior Genetics, 1970, 1, 43–56.Google Scholar
  80. Myrianthopoulos, N. C. Huntington’s chorea: The genetic problem five years later, In A. Barbeau, T. N. Chase, & G. W. Paulson (Eds.), Advances in neurology (Vol. 1). New York: Raven Press, 1973.Google Scholar
  81. Nielsen, J. Turner’s Syndrome in medical, neurological, and psychiatric wards. Acta Psychiatrica Scandinavica, 1970, 46, 286–310.Google Scholar
  82. Nielsen, J. Gender role-identity and sexual behaviour in persons with sex chromosome aberrations. Danish Medical Bulletin, 1972, 19, 269–275.Google Scholar
  83. Oliver, J. E. Huntington’s Chorea in Northamptonshire. British Journal of Psychiatry, 1970a, 116, 241–253.Google Scholar
  84. Oliver, J. E. Socio-psychiatric consequences of Huntington’s Disease. British Journal of Psychiatry, 1970b, 116, 255–258.Google Scholar
  85. Palm, D. J. Longitudinal study of a preclinical test program for Huntington’s Chorea. In A. Barbeau, T. N. Chase, & G. W. Paulson (Eds.), Advances in neurology (Vol. 1). New York: Raven Press, 1973.Google Scholar
  86. Pearson, J. E. Behavioral aspects of Huntington’s Chorea. In A. Barbeau, T. N. Chase, & G. W. Paulson (Eds.), Advances in neurology (Vol. 1). New York: Raven Press, 1973.Google Scholar
  87. Plumridge, D. Good things come in small packages: The whys and hows of Turner’s Syndrome. Portland: University of Oregon Health Sciences Center, 1976.Google Scholar
  88. Power, P. W., & Sax, D. S. The communication of information to the neurological patient: Some implications for family coping. Journal of Chronic Diseases, 1978, 31, 57–65.Google Scholar
  89. Puck, M., Tennes, K., Frankenburg, W., Bryant, K., & Robinson, A. Early childhood development of four boys with 47, XXY karyotype. Clinical Pediatrics, 1975, 7, 8.Google Scholar
  90. Reyes, F. I., Koh, K. S., & Faiman, C. Fertility in women with gonadal dysgenesis. American Journal of Obstetrics and Gynecology, 1976, 126, 668–670.Google Scholar
  91. Rinieris, P. M., Malliaras, D. E., Batrinos, M. L., & Stefanis, C. N. Testosterone treatment of depression in two patients with Klinefelter’s Syndrome. American Journal of Psychiatry, 1979, 136, 986–988.Google Scholar
  92. Robinson, A., Lubs, H. A., Nielsen, J., & Sorensen, K. Summary of clinical finding: Profiles of children with 47, XXY, 47, XXX and 47, XYY karyotypes. BirthDefects: Original Article Series, 1979, 15, 261–266.Google Scholar
  93. Rouse, B. M. Phenylalanine deficiency syndrome. Journal of Pediatrics, 1966, 69, 246–249.Google Scholar
  94. Sabbath, J. C., Morris, T. A., Menzer-Benaron, D., & Sturgis, S. H. Psychiatric observations in adolescent girls lacking ovarian function. Psychosomatic Medicine, 1961, 23, 224–231.Google Scholar
  95. Sanchez, O., & Yunis, J. J. New chromosome techniques and their medical applications. In J. J. Yunis (Ed.), New Chromosomal Syndromes. New York: Academic Press, 1977.Google Scholar
  96. Sankaranarayanan, K. The role of non-disjunction in aneuploidy in man: An overview. Mutation Research, 1979, 61, 1–28.Google Scholar
  97. Schild, S. Psychological issues in genetic counseling of PKU. In S. Kessler (Ed.), Genetic counseling: Psychological dimensions. New York: Academic Press, 1979.Google Scholar
  98. Shaffer, J. W. A specific cognitive defect observed in gonadal aplasia (Turner’s Syndrome). Journal of Clinical Psychology, 1962, 18, 403–406.Google Scholar
  99. Shoulson, I. Clinical care of the patient and family with Huntington’s Disease. New York: Committee to Combat Huntington’s Disease, 1978.Google Scholar
  100. Sibinga, M. S., & Friedman, C. J. Complexities of parental understanding of phenylketonuria. Pediatrics, 1971, 48, 216–224.Google Scholar
  101. Smith, I., Clayton, B. E., & Wolff, O. H., New variant of PKU with progressive neurological illness unresponsive to phenylalanine restriction. Lancet, 1975, 1, 1108.Google Scholar
  102. Smith, I., Lobascher, M. E., Stevenson, J. E., Wolff, O. H., Schmidt, H., Gruber-Kaiser, S., & Bickel, H. Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria. British Medical Journal, 1978, 2, 723–726.Google Scholar
  103. Smith, I., & Wolff, O. H., Natural history of PKU and influence on early treatment. Lancet, 1974, 2, 540–544.Google Scholar
  104. Solomons, G., Keleske, L., & Opitz, E. Evaluation of the effects of terminating the diet in phenylketonuria. Journal of Pediatrics, 1966, 69, 596–602.Google Scholar
  105. Steisel, I. M., Friedman, C. J., & Wood, A. C., Jr. Interaction patterns in children with phenylketonuria. Journal of Consulting Psychology, 1967, 31, 162–168.Google Scholar
  106. Stevenson, J. E., Hawcroft, J., Lobascher, M., Smith, I., Wolff, O. H., & Graham, P. Behavioral deviance of children with early treated phenylketonuria. Archives of Disease in Childhood, 1979, 54, 14–18.Google Scholar
  107. Sutherland, B. S., Umbarger, B., & Berry, H. K. Treatment of PKU: A decade of results. American Journal of Diseases in Childhood, 1966, 111, 505–523.Google Scholar
  108. Swiatek, M. Nursing and boarding homes try a new medicine, recreation therapy. In HD Handbook for health professions. New York: Committee to Combat Huntington’s Disease, 1973.Google Scholar
  109. Thomas, A., & Chess, S. Temperament and development. New York: Brunner/Mazel, 1977.Google Scholar
  110. Turner, H. H. A syndrome of infantilism, congenital webbed neck and cubitus valgus. Endocrinology, 1938, 23, 566–574.Google Scholar
  111. Vandeman, P. R. Termination of treatment for PKU. American Journal of Diseases in Childhood, 1963, 106, 492–495.Google Scholar
  112. Waber, D. P. Neuropsychological aspects of Turner’s Syndrome. Developmental Medicine and Child Neurology, 1979, 21, 58–70.Google Scholar
  113. Watson, M. A., & Money, J. Behavior cytogenetics and Turner’s Syndrome: A new principle in counseling and psychotherapy. American Journal of Psychotherapy, 1975, 29, 166–178.Google Scholar
  114. Wechsler, D. Wechsler intelligence scale for children-Revised. New York: The Psychological Corporation, 1974.Google Scholar
  115. Wexler, N. S. Living out the dying: HD, grief, and death. In HD Handbook for health professionals. New York: Committee to Combat Huntington’s Disease, 1973.Google Scholar
  116. Wexler, N. S. Personal communication. November 2, 1976.Google Scholar
  117. Wexler, N. S. Genetic “Russian Roulette”: The experience of being “at risk” for Huntington’s Disease. In S. Kessler (Ed.), Genetic counseling: Psychological dimensions. New York: Academic Press, 1979.Google Scholar
  118. Whittier, J. R., Heimler, A., & Korenyi, C. The psychiatrist and Huntington’s Disease (Chorea). American Journal of Psychiatry, 1972, 128, 1546–1550.Google Scholar
  119. Williamson, M., Koch, R., & Berlow, S. Diet discontinuation in phenylketonuria. Pediatrics, 1979, 63, 823–824.Google Scholar
  120. Wood, A. C, Jr., Friedman, C. J., & Steisel, I. M. Psychosocial factors in phenylketonuria. American Journal of Orthopsychiatry, 1967, 37, 671–679.Google Scholar
  121. Wood, B. Neurological disturbance in a phenylketonic child after discontinuance of dietary treatment. Developmental Medicine and Child Neurology, 1976, 18, 657–665.Google Scholar

Copyright information

© Plenum Press, New York 1981

Authors and Affiliations

  • Russell H. Jackson

There are no affiliations available

Personalised recommendations