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 concerned about inherited problems. the recent variation has been greatly up-to-date with new and revised chapters to surround fast advances within the box. uncomplicated genetic ideas are defined besides the applying of latest applied sciences in scientific perform. info on correct websites also are incorporated besides prompt texts for additional examining.

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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). Unbalanced Robertsonian translocations may arise spontaneously or be inherited from a parent carrying a balanced translocation.

In Prader–Willi syndrome both isodisomy (inheritance of identical chromosome 15s from one parent) and heterodisomy (inheritance of different 15s from the same parent) have been observed. Uniparental disomy is rare in Angelman syndrome, but when it occurs it involves disomy of the paternal chromosome 15. Other cases are due to mutations within the Angelman syndrome gene (UBE3A) that affect its function. Imprinting has been implicated in other human diseases, for example familial glomus tumours that occur only in people who inherit the mutant gene from their father and Beckwith–Wiedemann syndrome that occurs when maternally transmitted.

In most conditions in which Y linked inheritance has been postulated the actual mode of inheritance is probably autosomal dominant with sex limitation. Genes involved in male development and spermatogenesis are carried by the Y chromosome, but the mode of inheritance is not demonstrated because of the associated infertility. 13 Pedigree demonstrating Y linked inheritance 29 7 Unusual inheritance mechanisms Unstable mutations It has generally been assumed that mutant alleles causing mendelian disorders are transmitted unchanged from parent to child.

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ABC of Clinical Genetics by Helen M. Kingston


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