Genetic studies in mental subnormality.

Date:
1973
Catalogue details

Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Credit: Genetic studies in mental subnormality. Source: Wellcome Collection.

    96/100 (page 82)
    82 GENETIC STUDIES IN MENTAL SUBNORMALITY clinical abnormality in common. Biochemical and other investigations normal. Inheritance: Genetic data are insufficient to allow a firm classification, but are consistent with autosomal recessive form. Family so—Psychosis, kyphosis, non-pigmented moles The sibship consists of two brothers (index cases 41 and 42), aged 31 and 29, a brother (index case 43), aged 23. Parents unrelated, said to be of low intelligence. No other instance of mental defect is known among the relatives (14 cousins and 10 uncles). Grandparents were normal. The eldest (case 41) born prematurely weighing 2 • о kilo, made normal early progress. Speech was delayed and he was found to be retarded at school. I.Q,.48. He is quiet and friendly; reported psychotic reaction at 17. Height and weight normal. Dark- haired with a narrow adenoidal facies and stands stooped looking at the groimd. Abnormal clinical findings are a thoracic kyphosis, пшпегош non- pigmented papillomata over the trunk and spatulate fingers. The second (case 42) born normally at full term and is said to have made normal progress until he went to school. I.Q,. 50; he is friendly but sometimes spiteful. He has periodic hallucinations, but no other overt psychotic features. In his facies, posture, kyphosis and the presence of non-pigmented papillo¬ mata on the trunk he closely resembles his brother. The youngest brother (case 43) has an I.Q,. of 60 and is at work. He bears a facial resemblance to his brothers, but has not presented any psychotic symptoms. Laboratory investigations revealed no abnormality. Inheritance: Genetic data are insufficient to allow a firm classification, but are compatible with autosomal recessive, X-linked or possibly even a dominant form of inheritance. Family 21—Epilepsy Two brothers (index cases 44 and 45), aged 30 and 28, have an elder brother, who is a severely subnormal epileptic, an older sister who was normal, a sister E.S.N, who has two normal children, and a half-brother in a remand home. Parents unrelated, mother feeble-minded, father is a mentally deficient epileptic. Grandparents and known relatives normal. Details of births and early life not known. I.Q,. of the elder (case 44) is 20 or less and of the younger (case 45) 50. Both had major epilepsy until 6 and 20. They present no more than a family resemblance, and show no clinical or biochemical abnormality. Inheritance: Consistent with dominant or somal recessive form. Family 23—Epidermolysis bullosa Two sisters (index cases 48 and 49), aged 55 and 51, have a brother mentally subnormal. Parents were unrelated, illiterate and of low intelligence. I-Q-s 30 and 35. They are quiet and in general co-operative. Both show scars, lesions of epidermo¬ lysis bullosa on knees and ankles, and the older dystrophic finger nails. E.E.G. of the older (case 48) mildly abnormal, consistent with the history of previous epilepsy. Biochemical investigations normal. Inheritance: Genetic data are insufficient to allow a firm classification but are compatible with autosomal recessive or possibly dominant form. Family 24—Infected excoriations of buttocks, digital anomaly, mild hypertension The sibship consists of a normal sister, aged 28, who has a normal son and daughter; a brother who died of pneumonia in infancy; a brother believed to have had normal intelligence, who died from rheu¬ matic fever aged 7 ; a brother aged 21 (index case 50) ; a brother aged 18 (index case 51); and a normal younger brother. Parents unrelated, both illiterate. Twenty-four cousins, normal. Paternal grandparents normal. The older brother: I.Q. 20. Restless and destructive. Fair hair, brown eyes, variable strabismus. Normal physique. B.P. 140/90. Grade 2 ejection systolic murmur. Fourth toes short, not otherwise malformed. Buttocks, chronically infected excoriations. Clinically otherwise normal. Progress delayed from infancy. Case 51: I.Q. 18. Amenable and affectionate, sometimes restless, fair hair and blue eyes. Nutrition, physique normal. Buttocks, chronic infected excoria¬ tions. Varicose veins. Otherwise clinically normal. Retardation noted in early childhood. No bio¬ chemical abnormality has been found. Inheritance: Genetic data are insufficient to allow a firm classification but are consistent with X-linked or autosomal recessive form. Family 30 The sibship consists of a brother (index case 65) aged 57, a sister (index case 66) aged 41, and a brother severely subnormal. No information is available concerning their family or early history. I-Q-s 37 and 30. Apart from mental defect and family resemblance, they have no unusual similarities. The sister is a deaf mute. No biochemical abnormality has been found. Inheritance : Genetic data are insufficient to allow a classification but are consistent with autosomal ssive form. UBRAfW '%ТГ^