ABC of Clinical Genetics - download pdf or read online

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By Helen M. Kingston

ISBN-10: 0727916270

ISBN-13: 9780727916273

This ABC is a concise, hugely illustrated creation to genetic mechanisms excited about inherited issues. the recent version has been widely up to date with new and revised chapters to surround speedy advances within the box. easy genetic options are defined in addition to the appliance of latest applied sciences in medical perform. details on proper websites also are integrated in addition to advised texts for extra analyzing.

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In subjects with mosaic chromosomal abnormalities the abnormal cell line may not be present in peripheral lymphocytes. In these cases, examination of cultured fibroblasts from a skin biopsy specimen is needed to confirm the diagnosis. 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.

Neonatal blood sample showed normal karyotype 21 21 Translocations Robertsonian translocations Robertsonian translocations occur when two of the acrocentric chromosomes (13, 14, 15, 21, or 22) become joined together. Balanced translocation carriers have 45 chromosomes but no significant loss of overall chromosomal material and they are almost always healthy. In unbalanced translocation karyotypes there are 46 chromosomes with trisomy for one of the chromosomes involved in the translocation. This may lead to spontaneous miscarriage (chromosomes 14, 15, and 22) or liveborn infants with trisomy (chromosomes 13 and 21).

Many X linked recessive disorders are severe or lethal during early life, however, so that the affected males do not reproduce. Affected females Occasionally a heterozygous female will show some features of the condition and is referred to as a manifesting carrier. This is usually due to non-random X inactivation leading to the chromosome that carries the mutant allele remaining active in most cells. The process of X inactivation that occurs in early embryogenesis is normally random, so that most female carriers would have around 50% of the normal gene remaining active, which is sufficient to prevent clinical signs.

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ABC of Clinical Genetics by Helen M. Kingston


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