By Helen M. Kingston

ISBN-10: 0727916270

ISBN-13: 9780727916273

This ABC is a concise, hugely illustrated advent to genetic mechanisms inquisitive about inherited issues. the hot version has been generally up-to-date with new and revised chapters to surround swift advances within the box. simple genetic ideas are defined besides the applying of latest applied sciences in scientific perform. details on suitable sites also are incorporated besides urged texts for additional examining.

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Extra resources for ABC of Clinical Genetics

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This results in early spontaneous loss of the fetus in over 95% of cases. Severely affected fetuses who survive to the second trimester can be detected by ultrasonography, which shows cystic hygroma, chylothorax, asictes and hydrops. Fetal mortality is very high in these cases. The incidence of Turner syndrome in liveborn female infants is 1 in 2500. Phenotypic abnormalities vary considerably but are usually mild. In some infants the only detectable abnormality is lymphoedema of the hands and feet.

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.

Abnormalities resulting from an unbalanced reciprocal translocation depend on the particular chromosomal fragments that are present in monosomic or trisomic form. Sometimes spontaneous abortion is inevitable; at other times a child with multiple abnormalities may be born alive. Clinical syndromes have been described due to imbalance of some specific chromosomal segments. This applies particularly to terminal chromosomal deletions. For other rearrangements, the likely effect can only be assessed from reports of similar cases in the literature.

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ABC of Clinical Genetics by Helen M. Kingston


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