New PDF release: ABC of Clinical Genetics, 3rd Edition

By Helen M. Kingston

ISBN-10: 0585393885

ISBN-13: 9780585393889

ISBN-10: 0727916270

ISBN-13: 9780727916273

This ABC is a concise, hugely illustrated creation to genetic mechanisms excited by inherited problems. the hot version has been commonly up-to-date with new and revised chapters to surround swift advances within the box. easy genetic strategies are defined in addition to the appliance of latest applied sciences in scientific perform. info on suitable websites also are integrated in addition to suggested texts for additional studying.

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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. The most consistent features of the syndrome are short stature and infertility from streak gonads, but neck webbing, broad chest, cubitus valgus, coarctation of the aorta, renal anomalies and visual problems may also occur. Intelligence is usually within the normal range, but a few girls have educational or behavioural problems.

The remaining respiratory chain polypeptides are encoded by nuclear genes. Diseases affecting mitochondrial function may therefore be controlled by nuclear gene mutation and follow mendelian inheritance, or may result from mutations within the mitochondrial DNA. 3 Examples of diseases caused by mitochondrial DNA mutations Disorder Symptoms Common mutation Inheritance Leber hereditary optic neuropathy (LHON) Acute visual loss and possibly other neurological symptoms Point mutation at position 11778 in ND4 gene of complex 1 Maternal MERRF Myoclonic epilepsy, other neurological symptoms and ragged red fibres in skeletal muscle Point mutation in tRNA-Lys gene (position 8344) Maternal Kaerns–Sayre syndrome Progressive external ophthalmoplegia, pigmentary retinopathy, heart block, ataxia, muscle weakness, deafness Large deletion (position 8470-13447) Large tandem duplication Usually sporadic Encephalomyopathy, lactic acidosis, stroke-like episodes Point mutation in tRNA-Leu gene (position 3243) MELAS Sporadic Maternal 33 ABC of Clinical Genetics accumulation of mitochondrial mutations with time has been suggested as playing a role in ageing.

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.

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ABC of Clinical Genetics, 3rd Edition by Helen M. Kingston


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