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Phenotype-Karyotype Relationships in Turner Syndrome

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Therapeutic Outcome of Endocrine Disorders

Part of the book series: Serono Symposia USA ((SERONOSYMP))

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Abstract

Turner syndrome (TS) is a chromosomal disorder in which all, or a substantial part, of one X chromosome is missing due to nondisjunction, or chromosome loss, during gametogenesis or early cleavage of the zygote. The condition is associated with a range of psychosocial difficulties, primarily involving immaturity and problems with social relationships, although intelligence is usually entirely normal for verbal skills (1–4). Girls with this disorder have been described as characteristically immature, with a poor self-concept, relative to normal comparisons of similar age. There is some evidence that self-esteem declines as they pass from earlier childhood into adolescence. Within-group differences in stature, relative to the normal range, are not predictive of social adjustment, which suggests that whatever factors do contribute to poor social adjustment, short stature as such is unlikely to be of major significance (5,6). The problems in social adjustment do persist over time. Studies of older individuals have found that impairment in the ability to make and sustain friendships, which often becomes apparent during adolescence, often continues into adult life (4).

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Skuse, D., Bishop, D., Elgar, K., Morris, E. (2000). Phenotype-Karyotype Relationships in Turner Syndrome. In: Stabler, B., Bercu, B.B. (eds) Therapeutic Outcome of Endocrine Disorders. Serono Symposia USA. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-1230-0_8

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  • DOI: https://doi.org/10.1007/978-1-4612-1230-0_8

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4612-7052-2

  • Online ISBN: 978-1-4612-1230-0

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