Read e-book online ABC of Clinical Genetics PDF

By Helen M. Kingston

ISBN-10: 0727916270

ISBN-13: 9780727916273

This ABC is a concise, hugely illustrated advent to genetic mechanisms all in favour of inherited problems. the recent version has been largely up-to-date with new and revised chapters to surround speedy advances within the box. simple genetic techniques are defined in addition to the applying of recent applied sciences in scientific perform. info on appropriate websites also are incorporated besides steered texts for additional analyzing.

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Pubertal development usually starts spontaneously, but testicular size decreases from mid-puberty and hypogonadism develops. Testosterone replacement is usually required and affected males are infertile. Poor facial hair growth is an almost constant finding. Tall stature is usual and gynaecomastia may occur. The risk of cancer of the breast is increased compared to XY males. Intelligence is generally within the normal range but may be 10–15 points lower than siblings. Educational difficultes are fairly common and behavioural disturbances are likely to be associated with exposure to stressful environments.

Educational problems are encountered more often in this group than in the other types of sex chromosome abnormalities. Mild delay with early motor and language development is fairly common and deficits in both receptive and expressive language persist into adolescence and adulthood. 18 Normal appearance and development in 3-year old girl with triple X syndrome 23 ABC of Clinical Genetics schools. The incidence of mild psychological disturbances may be increased. Occasional menstrual problems are reported, but most triple X females are fertile and have normal offspring.

After the birth of one affected child, the recurrence risk is generally higher (5–30%). The risk of a liveborn affected child is less for families ascertained through a history of recurrent pregnancy loss where there have been no liveborn affected infants. Pregnancies at risk can be monitored with chorionic villus sampling or amniocentesis. 13 Possibilities for offspring of a 7;11 reciprocal translocation carrier Deletions Chromosomal deletions may arise de novo as well as resulting from unbalanced translocations.

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ABC of Clinical Genetics by Helen M. Kingston

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