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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The syndrome of myoclonus, epilepsy, and mental deficiency is observed in a number of distinct nosologic entities differing with respect to clinical course, (--) pathologic, and biochemical findings. Genetically, the heterogeneity within this group of disorders is shown by the occurrence of autosomal recessive and dominant forms with incomplete penetrance. In this paper we report on a sibship with at least four affected males suffering from progressive myoclonus epilepsy, ataxia, and mental deterioration. The syndrome is probably X-linked, as suggested by the maternal transmission and mild, variable symptoms in some female carriers. In a survey of the literature we have found another pedigree suggesting X-linked inheritance of this variant of progressive myoclonus epilepsy.
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PMID:Progressive myoclonus epilepsy. A variant with probable X-linked inheritance. 11 32

A pedigree is presented in which an apparently unaffected man transmitted the gene for X-linked mental retardation to at least four of his 12 daughters. None of his 12 sons was mentally retarded. These findings may be explained by a somatic mutation and germinal mosaicism in the father or by a half chromatid mutation in maternal gametes.
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PMID:X-linked mental retardation: transmission of the trait by an apparently unaffected male. 26 39

We report six males with the syndrome of macroorchidism and mental retardation. The trait is inherited as though X-linked, or possibly autosomal dominant male-limited. We also found no evidence of gonadal dysfunction. Associated abnormalities were abnormal EEG (3/4), seizures (2/6), and one instance each of cervical vertebral fusion, cataract, esophoria, and abnormal cutaneous pigmentation. One woman with a 50% a priori risk of bearing the mutant gene had mental retardation and seizures. Results of Xg blood-group typing were uninformative for the purpose of linkage analysis.
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PMID:The X-linked syndrome of macroorchidism and mental retardation: further observations. 26 49

Cytogenetic and verbal studies were done on members of four families with non-specific X-linked mental retardation. Cytogenetic analysis was done using media 199 and GTG-banding; one family had a marker X with a fragile site in band Xq27 or 28. Preliminary results indicate variation of culture conditions can effect the frequency of the marker X. A generalized language disability was found which tended to concentrate in the areas of auditory reception, auditory sequential memory, visual closure and grammatic closure. Articulation errors involved the same sounds which are late in normal development and occur most frequently in both the general population and a Down syndrome population.
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PMID:Familial X-linked mental retardation, verbal disability, and marker X chromosomes. 45 4

A family with X-linked mental retardation and a marker X chromosome was ascertained by the presence of macro-orchidism in the three institutionalized probands. Verbal evaluation revealed a generalized language disability with commonly occurring articulation errors. The heterozygous females in this family exhibited some reduction in mental ability; the marker X chromosome was demonstrated in both sexes.
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PMID:X-linked mental retardation with macro-orchidism and marker X chromosomes. 48 8

Two brothers, the only two children of nonconsanguineous parents, have no perception of light, bilateral microphthalmos, and degenerative corneal opacities that just allow observation of shallow anterior chambers and cataracts. The right eye of the older was removed at the age of 6 weeks: "congenital retinal detachment" was found. The birth of a subsequent affected son suggests that recessive genes are responsible. An X-linked gene is calculated to be more likely than autosomal recessive genes. These two males may suffer from a form of Norrie's disease without mental deficiency, however, they may be examples of the severest form of "falciform retinal folds" (autosomal recessive) or they may represent the same end-result from a different inherited pathological process. After the birth of the first affected child, the parents had been reassured that this undiagnosed, and at that time unknown condition, would not affect future children. The tragedy of a second affected child followed. We suggest that recessive genes (autosomal or X-linked) be specifically considered--with literature search--in any sporadic case of a bilateral symmetrical condition of the eyes not hitherto well known, especially if congenital, and in the absence of consanguinity of parents affected males in previous maternal generations. The possibility of a dominant mutation when a single case occurs in a sibship should also be considered.
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PMID:Congenital hereditary bilateral nonattachment of retina: a sibship of two males. 52 77

We report 5 new cases of the FG syndrome, 1 sporadic, 3 brothers from a European family, and another affected male born in the first FG syndrome family reported by Opitz and Kaveggia in 1974. The pedigree data confirm the hypothesis of X-linked inheritance of this multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its manifestations include shortness of stature with a disproportionately large head, mental retardation, hypotonia with or without congenital joint contractures, seizures and a strikingly characteristic personality of facial appearance, imperforate anus and/or orthe gastrointestinal defects, congenital heart defects, and many minor manifestations. Chronic pulmonary disease in some affected males may be a complication of hypotonia.
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PMID:The FG syndrome: further characterization, report of a third family, and of a sporadic case. 56 38

Data are presented suggesting that the form of X-linked mental retardation with macro-orchidism and the form associated with a fragile site at Xq27 or 28 are the same entity.
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PMID:X-linked mental retardation with macro-orchidism and the fragile site at Xq 27 or 28. 57 32

Cytogenetic studies on a mentally retarded boy revealed an X-Y translocation, karyotype 46,X,t(X;Y)(p22;q11). Only 5 other such cases have been reported and these were all females. The unequivocal male phenotype suggested non-random inactivation of the normal maternally derived X chromosome, and that the non-inactivated X-Y translocation chromosome included the locus for male determination. Confirmation of this was provided by unassociated X and Y chromatin in interphase cells, as well as by reverse banding after BrdU incorporation and autoradiography of metaphase chromosomes. There was anomalous Xg blood group inheritance in the proband, indicating possible localisation of the Xg locus to the terminal portion of the X short arm. Linkage of Xg and a form of X-linked mental retardation is suggested. Close linkage of the Xg locus with the loci for alpha-galactosidase, phosphoglycerate kinase, G-6-PD, and MPS II was excluded.
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PMID:X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies. 74 19

Five male members in four generations of the same family had hypogonadism, gynecomastia, mental retardation, obesity, and short stature. The X-linked mode of inheritance, the distinctive facies, the normal size of the hands and feet, and the true gynecomastia are the main characteristics. Endocrine evaluation and histologic studies of the testes suggest partial hypogonadotropic hypogonadism. This disorder represents a new syndrome distinct from others previously described.
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PMID:X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity--a new syndrome. 75 23


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