By James Wynbrandt, Mark D. Ludman
This encyclopaedia presents info and certified medical details on genetic problems. it's reckoned that one in ten infants born through the international undergo a genetic illness or beginning disorder, and, if so-called "late-onset" genetic issues are counted, six in ten might be thought of to be afflicted by a few kind of genetically-influenced affliction. The encyclopaedia's goal is to supply concise details in A to Z structure for practitioners, researchers and anxious participants alike. It covers all statistically major afflictions, their unique identity and "history", details on diagnosis, availability of prenatal detection, biochemical and molecular bases, dialogue of a number of the diagnostic and screening recommendations and knowledge on possibility teams and mutogenic brokers. the entire genetic terminology helpful for an entire realizing of the topic is outlined, and every access displays modern released examine in its box.
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Extra resources for The Encyclopedia of Genetic Disorders and Birth Defects, 3rd Edition (Facts on File Library of Health and Living)
Example text
Motor control of the legs deteriorates progressively over a period of five to 15 years, requiring the use of cane or wheelchair. Life expectancy is only moderately diminished. Childhood ALD and adult onset AMN can both occur in different individuals in the same family pedigree, and result from the same MUTATION within the family. The basis for this is unknown, however, other factors must be involved in the expression of the disease. It has been suggested that immunological factors contribute to the pathogenesis of the central nervous system involvement in ALD.
The incidence of alkaptonuria in the United States is estimated to be one in 250,000 to 1,000,000 live births. Incidence is reportedly unusually high in the Dominican Republic and the Czech Republic. Affected individuals have normal intelligence and life span, although arthritis may limit their mobility. allele One of two or more alternative forms of any particular gene located on a GENE pair. Gene pairs, found at corresponding positions (loci) on CHROMOSOME pairs, represent two alleles. Many genes have more than one allele, such as those for blood type, with the alleles for types A, B and O all found at the same gene locus.
Spooner, a brilliant classicist whose amusing errors of speech became known as “spoonerisms,” was an albino. His errors of speech are thought to be related to his nystagmus, which caused a jumbling of information from the printed page, leading to a verbal jumbling of speech. Albinos are popularly thought to have red eyes, but actually most have blue or grayish eyes. In some types, the iris appears to have a violet or reddish hue, because light is reflected back from the reddish retina, similar to the effect seen in some flash photos where eyes appear red.