Download e-book for iPad: Atlas of Genetic Diagnosis and Counseling by Harold Chen

By Harold Chen

ISBN-10: 1461410363

ISBN-13: 9781461410362

Dr. Chen stocks his virtually forty years of scientific genetics perform in a finished pictorial atlas of just about 250 genetic problems, malformations, and malformation syndromes. the writer offers an in depth define for every ailment, describing its genetics, uncomplicated defects, medical gains, diagnostic exams, and counseling matters, together with recurrence hazard, prenatal analysis, and administration. various colour images of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the scientific good points of sufferers at diversified a long time, sufferers with various levels of severity, and the optimum diagnostic options. The problems mentioned are supplemented through case histories and diagnostic affirmation by means of cytogenetics, biochemical, and molecular options, while to be had. The Atlas of Genetic analysis and Counseling can help all physicians to appreciate and realize genetic ailments and malformation syndromes and higher evaluation, information, and deal with affected sufferers. during this re-creation, forty seven extra genetic problems are extra, in addition to huge updates made to the former issues. New illustrations, as prior variation, can be supplemented by way of case and kin background, scientific gains, and laboratory facts, particularly molecular confirmation.

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1974). Bone dysplasias. An atlas of constitutional disorders of skeletal development. Philadelphia: WB Saunders. Stratbucker, W. , & Serwint, J. R. (2009). In brief: Achondroplasia. Pediatrics in Review, 30, 114–115. , & Unger, S. (2007). Nosology and classification of genetic skeletal disorders: 2006 revision. American Journal of Medical Genetics. Part A, 143A, 1–18. Todorov, A. , Scott, C. , Warren, A. , et al. (1981). Developmental screening tests in achondroplastic children. American Journal of Medical Genetics, 9, 19–23.

Differences based on gender. Clinical Orthopaedics and Related Research, 332, 179–183. , et al. (1979). Leg lengthening in achondroplastic children. Clinical Orthopaedics, 144, 194–197. Hall, J. , et al. (1969). Two probable cases of homozygosity for the achondroplasia gene. Birth Defects Original Article Series, V(4), 24–34. Hall, J. , et al. (1988). The natural history of achondroplasia. In B. Nicoletti, S. E. Kopits, & E. ), Human achondroplasia: A multidisciplinary approach (pp. 3–10). New York: Plenum Press.

Journal of Clinical Ultrasound, 23, 56–58. Van der Harten, H. , Brons, J. , Dijkstra, P. , et al. (1988a). Achondrogenesis-hypochondrogenesis: The spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases. Pediatric Pathology, 8, 571–597. Van der Harten, H. , Brons, J. , Dijkstra, P. , et al. (1988b). Achondrogenesis-hypochondrogenesis: The spectrum of chondrogenesis imperfecta. A radiological, 16 ultrasonographic, and histopathologic study of 23 cases.

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Atlas of Genetic Diagnosis and Counseling by Harold Chen

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