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We report a three-generation family manifesting a previously undescribed X-linked mental retardation syndrome. Four of the six moderately retarded males have had episodes of manic-depressive psychosis. The phenotype also includes pyramidal signs, Parkinsonian features, and macroorchidism, but there are no characteristic dysmorphic facial features. Affected males do not show fragile sites at distal Xq on cytogenetic analysis, nor do they have expansions of the CGG repeats at the FRAXA, FRAXE, or FRAXF loci. Linkage analyses were undertaken, and a maximal LOD score of 3.311 at theta = .0 was observed with the microsatellite marker DXS1123 in Xq28. A recombination was detected in one of the affected males with DXS1691 (Xq28), which gives the proximal boundary of the localization. No distal recombination has been detected at any of the loci tested.

Type

Journal article

Journal

Am J Hum Genet

Publication Date

06/1996

Volume

58

Pages

1120 - 1126

Keywords

Adolescent, Adult, Base Sequence, Child, Chromosome Mapping, DNA Primers, Female, Genetic Markers, Humans, Intellectual Disability, Intelligence, Lod Score, Male, Molecular Sequence Data, Pedigree, Polymerase Chain Reaction, Psychotic Disorders, Syndrome, Testis, X Chromosome