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Sexual Function in Women with Turner Syndrome

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Journal of Women's Health

Mary Ann Liebert Inc

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      Development and validation of measures of social phobia scrutiny fear and social interaction anxiety11Editor’s note: This article was written before the development of some contemporary measures of social phobia, such as the Social Phobia and Anxiety Inventory (Turner et al., 1989). We have invited this article for publication because of the growing interest in the scales described therein. S.T.

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        Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.

        As part of a larger prospective study of the influence of environmental factors on pregnancy, birth and the fetus, chromosome examinations have been made in 34910 newborn children in Arhus over a 13-year period. Klinefelter's syndrome was found in 1 per 576 boys, XYY in 1 per 851 boys, triple-X in 1 per 947 girls and Turner's syndrome in 1 per 1893 girls. Other sex chromosome aberrations were found in 1 per 11,637 children. The total incidence of sex chromosome abnormalities was 1 per 426 children or 2.34 per 1000. The most frequent autosomal abnormalities were that of Down's syndrome with 1 per 592 children, and reciprocal translocations with 1 per 712 children. The total incidence of autosomal abnormalities was 1 per 164 children. Chromosome abnormalities were found in 276 liveborn children and in 19 fetuses, who were aborted after prenatal chromosome examination. The combined incidence of sex chromosomal and autosomal abnormalities was 1 per 118 children or 8.45 per 1000 children.
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          Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.

          Turner's syndrome is a sporadic disorder of human females in which all or part of one X chromosome is deleted. Intelligence is usually normal but social adjustment problems are common. Here we report a study of 80 females with Turner's syndrome and a single X chromosome, in 55 of which the X was maternally derived (45,X[m]) and in 25 it was of paternal origin (45,X[p]). Members of the 45,X[p] group were significantly better adjusted, with superior verbal and higher-order executive function skills, which mediate social interactions. Our observations suggest that there is a genetic locus for social cognition, which is imprinted and is not expressed from the maternally derived X chromosome. Neuropsychological and molecular investigations of eight females with partial deletions of the short arm of the X chromosome indicate that the putative imprinted locus escapes X-inactivation, and probably lies on Xq or close to the centromere on Xp. If expressed only from the X chromosome of paternal origin, the existence of this locus could explain why 46,XY males (whose single X chromosome is maternal) are more vulnerable to developmental disorders of language and social cognition, such as autism, than are 46,XX females.
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            Author and article information

            Journal
            Journal of Women's Health
            Journal of Women's Health
            Mary Ann Liebert Inc
            1540-9996
            1931-843X
            January 2008
            January 2008
            : 17
            : 1
            : 27-33
            10.1089/jwh.2007.0488
            © 2008

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