Download ABC of Clinical Genetics, 3rd Edition by Helen M. Kingston PDF

By Helen M. Kingston

This ABC is a concise, hugely illustrated creation to genetic mechanisms enthusiastic about inherited issues. the recent version has been generally up-to-date with new and revised chapters to surround fast advances within the box. uncomplicated genetic innovations are defined besides the applying of recent applied sciences in scientific perform. details on suitable sites also are integrated besides instructed texts for extra interpreting.

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Associations with autoimmune thyroiditis, hypertension, obesity and non-insulin dependent diabetes have been reported. Growth can be stimulated with androgens or growth hormone, and oestrogen replacement treatment is necessary for pubertal development. A proportion of girls with Turner syndrome have a mosaic 46XX/45X karyotype and some of these have normal gonadal development and are fertile, although they have an increased risk of early miscarriage and of premature ovarian failure. Other X chromosomal abnormalities including deletions or rearrangements can also result in Turner syndrome.

The clinical effect of a mosaic abnormality detected prenatally is difficult to predict. Most cases of mosaicism for chromosome 20 detected at amniocentesis, for example, are not associated with fetal abnormality. The trisomic cell line is often confined to extra fetal tissues, with neonatal blood and fibroblast cultures revealing normal karyotypes in infants subsequently delivered at term. In some cases, however, a trisomic cell line is detected in the infant after birth and this may be associated with physical abnormalities or developmental delay.

Gynogenetic conceptions, arising by replacement of the male pronucleus with a second female one, results in dermoid cysts that develop into multitissue ovarian teratomas. One of the best examples of imprinting in human disease is shown by deletions in the q11-13 region of chromosome 15, which may cause either Prader–Willi syndrome or Angelman syndrome. The features of Prader–Willi syndrome are severe neonatal hypotonia and failure to thrive with later onset of obesity, behaviour problems, mental retardation, characteristic facial appearance, small hands and feet and hypogonadism.

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