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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 fascinated by inherited issues. the hot variation has been generally up to date with new and revised chapters to surround swift advances within the box. easy genetic options are defined besides the applying of latest applied sciences in medical perform. info on appropriate sites also are integrated in addition to advised texts for extra analyzing.

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Extra info for ABC of Clinical Genetics, 3rd Edition

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The majority of males with this karyotype have no evidence of clinical abnormality and remain undiagnosed. Accelerated growth in early childhood is common, leading to tall stature, but there are no other physical manifestations of the condition apart from the occasional reports of severe acne. Intelligence is usually within the normal range but may be about 10 points lower than in siblings and learning difficulties may require additional input at school. Behavioural problems can include hyperactivity, distractability and impulsiveness.

10 Segregation of an X linked recessive allele when the father is affected Mendelian inheritance are discussed further in chapter 9. Carrier detection is not always straightforward as the mothers of some isolated cases may have normal carrier test results but carry germline mutations leading to a risk of recurrence. In cases where mutation analysis cannot be undertaken, biochemical tests and/or linkage analyses are often possible, but may not give definitive results. 6 Examples of X linked recessive disorders • • • • • • • • • • • • • • • • • • Anhidrotic ectodermal dysplasia Becker muscular dystrophy Choroideraemia Colour blindness Duchenne muscular dystrophy Emery–Dreifuss muscular dystrophy Fabry disease Fragile X syndrome G-6-P-D deficiency Haemophilia A, B Hunter syndrome (MPS II) Ichthyosis (steroid sulphatase deficiency) Lesch–Nyhan syndrome Menkes syndrome Ocular albinism Ornitine transcarbamylase deficiency Retinitis pigmentosa (some types) Testicular feminisation syndrome X linked dominant inheritance An X linked dominant gene will give rise to a disorder that affects both hemizygous males and heterozygous females.

Balanced reciprocal translocations are found in one in 500–1000 healthy people in the population. When an apparently balanced recriprocal translocation is detected at amniocentesis it is important to test the parents to see whether one of them carries the same translocation. If one parent is a carrier, the translocation in the fetus is unlikely to have any phenotypic effect. The situation is less certain if neither parent carries the translocation, since there is some risk of mental disability or physical effect associated with de novo translocations from loss or damage to the DNA that cannot be seen on chromosomal analysis.

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