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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A quantitative morphological assessment was carried out of the cellularity and staining properties of the cells of the layers of the human cerebellar cortex, both in the normal child and in 41 children suffering from a series of disorders including mental retardation. A computerized image analyser and highly standardized procedures were used. All of the cases of mental retardation and some cases with congenital cardiac anomalies showed abnormal cell concentrations and staining properties. 3 cases of 'cot death' also showed abnormal results. These findings are presented as a new measurable aspect of brain disease, and as a indication for further study.
Arch Dis Child 1976 Dec
PMID:Quantitative morphological studies of developing human cerebellar cortex in various disease states. 101 50

A clinical and cytogenetic investigation carried out in a special institution for mentally retarded patients revealed 82 cases of oligophrenia, amongst whom were found 56 normal karyotypes (68.3%). Out of 25 karyotypes with chromosome anomalies or variants there were 18 cases of trisomy 21 and 7 others: one case of mosaicism with balanced translocation, 46,XX/46,XX,6p+,17q-; one case of partial trisomy, 46,XX,11q+; one case of pericentric inversion, 46,XY,inv(1) (p13,q21); one case with 8% chromosome breaks; three cases of marker chromosomes, of which one was of karyotype 46,XX,1qh+, and two (oligophrenic sisters) 46,XX,21p+. Moreover, there was an interesting case of testicular feminisation in a 9-year-old girl with karyotype 46,XY. The authors' results corroborate those obtained in several important previous studies based on much larger numbers of patients. Amongst the 56 cases where the karyotype was shown to be normal, there were 15 for whom a probably exogenic cause of the oligophrenia could be established, occurring mainly during the perinatal period. The authors were also able to confirm that the genetic factor plays an important role in the incidence of mental retardation, since in 22 examined patients, i.e. 26.8% of all cases, the condition was of familial type. Some interesting observations of idiopathic oligophrenia are reported, as well as several cases with well-known syndromes (Crouzon's and Cornelia de Lange's syndromes, hypothyroidism). Two cases of incest between father and daughter, which had produced children with serious oligophrenia associated, in one case, with deaf-mutism, microphthalmia, microcephaly and sclerocornea, are also discussed. The data show that mental retardation can frequently have a genetic cause, either of mendelian, chromosomal or multifactorial origin.
J Genet Hum 1976 Dec
PMID:[A clinical and cytogenetic investigation carried out in a special institution for mentally retarded patients: preliminary results concerning 82 cases of oligophrenia (author's transl)]. 102 53

The syndrome of trisomy 10q24leads to 10qter is described from three patients studied by the authors and five cases reported from the literature. The characteristic dysmorphy of the syndrome, although different from that of trisomy 21, nevertheless is reminiscent because of euroasiatic facies. The facies is broad, round, because of euroasiatic facies. The facies is broad, round, and flat, with a prominent malar region and a high and convex forehead. Palpebral fissures are narrow with bilateral epicanthal folds, and the nasal bridge is hypoplasitc. Marked joint laxity allows spontaneous and reductible subluxations. Growth retardation is the rule, and mental retardation is severe. No specific dermatoglyphic abnormalities are noted; there is a gap between the first and second toes, with a marked plantar crease separating them. Although trisomy 10q24leads to10qter results from various terminal translocations or pericentric inversion in one case, the location of the breakage point in band 10q24 suggests a particular lability of this zone.
Ann Genet 1975 Dec
PMID:[Trisomy 10q24--10qter]. 108 88

Partial monosomy 11q occurring de novo and concerning the 11q231 leads to qter region, is reported in a 2-month-old boy. This observation together with three others from the literature allows the individualization of a syndrome characterized by: severe growth retardation: more or less pronounced mental retardation; trigonocephaly; facial dysmorphia.
Ann Genet 1975 Dec
PMID:[Partial 11q monosomy and trigonocephaly. A new syndrome]. 108 97

A girl with mental retardation, a convulsive disorder and clinical findings resembling cerebral palsy had an apparently balanced 12/18 translocation. Three additional cases reported in the literature had an abnormal phenotype associated with the positioning of segments from other autosomes adjacent to the band 12q21. Penotype abnormalities were not present in 14 individuals in which the translocation involved breaks at other sites on chromosome no. 12. These findings suggest the possibility of a position effect on chromosome segments translocated adjacent to the region 12q21.
Ann Genet 1976 Dec
PMID:Balanced translocations involving chromosome 12: report of a case and possible evidence for position effect. 108 56

Of the 20 patients given rifampicin and isoniazid, 19 survived and one died. Twelve patients recovered from the disease without any significant neurologic defect. Seven patients had moderate to severe handicaps which included hemiparesis in four, hydrocephalus in two,mental retardation in three, and blindness in one. There was no hearing deficit. The average hospital stay in this group was 3-1/2 weeks. Among the 13 patients given streptomycin, PAS, and isoniazid, four are dead. Only three patients recovered with a completely good condition. The remainder had either single or multiple neurologic defects. The moderate degree of nerve deafness was also observed in two patients.
J Pediatr 1975 Dec
PMID:Evaluation of rifampicin in the treatment of tuberculous meningitis in children. 118 10

Recently, an association between telecanthus and/or hypertelorism and hypospadias has been reported in several families. We describe six more families in whom we have found this association. Seven of the eight affected individuals were males. The other was a girl with hypertelorism and a minor urethral abnormality. The mothers in all six families had hypertelorism and/or telecanthus. Mental retardation and cleft palate were also common in our families and those reported previously. The radiologic findings in our first family, which was reported elsewhere as the "branchio-skeletal-genital syndrome," are considered in detail and include skull abnormalities, maxillary hypoplasia, dentigerous cysts and vertebral abnormalities.
J Can Assoc Radiol 1975 Dec
PMID:The hypertelorism-hypospadias syndrome. 122 21

A pair of MZ male twins concordant for early infantile autism (E.I.A.) is presented. A distinction is drawn between E.I.A. and infantile psychosis (I.P.) with associated mental retardation as a guide to prognosis and the necessity to provide suitable social training and education. The relevance of aetiology is discussed, and the importance of abnormal ante-natal history and delivery status, even in cases with strong genetic predisposition, is noted.
Br J Psychiatry 1975 Dec
PMID:Infantile autism in twins. 123 37

Two families are described with an X-linked form of mental retardation in whom the affected males were found to have bilateral enlargement of the testes. No conclusive evidence of any endocrinological disturbance was found.
J Med Genet 1975 Dec
PMID:X-linked mental retardation associated with macro-orchidism. 124 Sep 71

Distal brachyphalangy (DBP) of the thumbs is a hereditary autosomal anomaly found in 1 to 1.5% of whites and in less than 1% of blacks. It was found in 26 of 852 mentally retarded patients in the present study; a frequency of over 3%. The male:female ratio was 70:30. There was bilateral DBP IN 69.5% and unilateral DBP on the right hand in 19% and on the left in 11.5%. The 26 cases (100%) showed a subsyndromic aggregate of distal brachyphalangy of the thumb (DBT), short stature and mental retardation, 19 of them presented an abnormal head and 17 presented abnormal feet (nine of them also had convulsions). Six cases are discussed in detail; it is suggested that they belong to particular clinical categories. In addition to gene abnormalities (which is the most likely cause) a possible explanation of the aetiological factors could be found in some sort of anomaly of the hypopituitary-hypothalmic area, since in the five cases where it was investigated, the sella turcica was small in four cases and large in one. Almost all known syndromes of which the subsyndrome discussed here is a part also shown abnormal skulls, and this may add to the aetiology.
J Med Genet 1975 Dec
PMID:Distal brachyphalangy of the thumb in mental retardation. 124 Sep 73


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