Medical Genetics in the Clinical Practice of ORL by Raye L. Alford, V. Reid Sutton
By Raye L. Alford, V. Reid Sutton
Specialists in otorhinolaryngology in addition to clinical genetics have contributed their stories to this entire compilation. Introductory chapters care for easy genetics via chapters dedicated to particular issues. The gamut of otorhinolaryngological ailments from either grownup and pediatric perform is roofed. integrated are universal problems reminiscent of listening to loss, cleft lip and palate, and thyroid cancers in addition to additional chapters on infrequent problems similar to Usher syndrome, neurofibromatosis style 2 and paraganglioma. additionally, rising fields of genetic research together with otitis media, continual rhinosinusitis and gene treatment are mentioned. The contributions specialize in analysis and administration, in addition to useful matters like how one can order genetic checking out or check with a scientific geneticist or genetic counselor. This ebook will function an instructional and reference textual content for either grownup and pediatric otorhinolaryngologists, in addition to scientific geneticists and genetic counselors. it's going to supply readers with an knowing of the present country of genetic problems visible in ORL perform, enable for actual analysis, and increase sufferer administration.
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Additional info for Medical Genetics in the Clinical Practice of ORL
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6 American College of Medical Genetics, Social Ethical and Legal Issues Committee: Duty to recontact. Genet Med 1999;1:171–172. Wayne W. Grody, MD, PhD Departments of Pathology and Laboratory Medicine and Pediatrics UCLA School of Medicine, 10833 Le Conte Ave. Los Angeles, CA 90095–1732 (USA) Tel. edu 24 Deignan · Grody Alford RL, Sutton VR (eds): Medical Genetics in the Clinical Practice of ORL. Adv Otorhinolaryngol. Basel, Karger, 2011, vol 70, pp 25–27 Referring Patients for a Medical Genetics Consultation and Genetic Counseling V.
Basel, Karger, 2011, vol 70, pp 37–42 Nonsyndromic Hereditary Hearing Loss Raye L. Alford Bobby R. , USA Abstract The etiology of hereditary hearing loss is extraordinarily complex. More than 400 genetic syndromes are associated with hearing loss and more than 140 genetic loci associated with nonsyndromic hearing loss have been mapped, with more than 60 genes identified to date. Hereditary hearing loss can be inherited as an autosomal dominant, autosomal recessive, X-linked or mitochondrial (maternally inherited) condition.
It can involve a single nucleotide or series of nucleotide bases, it can change an amino acid in the protein product of the gene (missense mutation), it can leave the amino acid unaltered (polymorphism or silent mutation), it can cause termination (premature truncation) of the protein (nonsense mutation), it can add extra nucleotides to the DNA sequence (insertion), and it can eliminate nucleotides from the DNA sequence (deletion). Whatever type of alteration exists, it must always be analyzed in the context of its effect on the protein, which is usually the most important functional element dictated by the genetic code.