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13, p. 55). Se´guin identified four categories: idiocy, including probably moderate to profound retardation; imbecility, comprising mildly retarded patients; backwardness or feeble-mindedness; simpleness, including people not really retarded but just slow in their development. William Wetherspoon Ireland classified mental retardation into 10 categories, namely: (1) genetous (congenital), (2) microcephalic (head circumference below 17 inches), (3) eclamptic, (4) epileptic, (5) hydrocephalic, (6) paralytic, (7) cretinism, (8) traumatic, (9) inflammatory, (10) by deprivation (13, p.

Eur J Hum Genet 2001; 9:71–81. 66. Neri G, Opitz JM. Sixty years of mental retardation: A historical footnote. Am J Med Genet (Semin Med Genet) 2000; 97:228–233. 2 Patterns of Inheritance: Mendelian and Non-Mendelian MERLIN G. A. F. A. I. INTRODUCTION AND TERMINOLOGY The field of medical genetics has as its overall goal the detection and treatment of pathologic genetic variation. In effect, it focuses on genetic disorders and diseases to which genetic factors contribute significantly. Genetic disorders refer to numerous syndromes and single gene conditions, as well as birth defects of known genetic etiology.

Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics. J Pediat 2002; 140:502–506. 41. Fo¨lling A. Excretion of phenylpyruvic acid in urine as a metabolic anomaly in connection to imbecility. Nord Med Tidskr 1934; 8:1054–1059. 42. Centerwall SA, Centerwall WR. The discovery of phenylketonuria: the story of a young couple, two retarded children, and a scientist. Pediatrics 2000; 105:89–103. 43. Penrose LS. Phenylketonuria—a problem in eugenics. An Hum Genet 1998; 62:193–202 (original paper in: Lancet 1946; 29: 949–953).

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