Harold Chen's Atlas of Genetic Diagnosis and Counseling PDF

By Harold Chen

ISBN-10: 1461410363

ISBN-13: 9781461410362

Dr. Chen stocks his nearly forty years of medical genetics perform in a complete pictorial atlas of just about 250 genetic problems, malformations, and malformation syndromes. the writer offers a close define for every disease, describing its genetics, simple defects, scientific positive factors, diagnostic exams, and counseling matters, together with recurrence hazard, prenatal analysis, and administration. a variety of colour pictures of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the medical positive factors of sufferers at various a long time, sufferers with various levels of severity, and the optimum diagnostic concepts. The issues brought up are supplemented by means of case histories and diagnostic affirmation by means of cytogenetics, biochemical, and molecular innovations, while to be had. The Atlas of Genetic analysis and Counseling can help all physicians to appreciate and realize genetic illnesses and malformation syndromes and higher evaluation, information, and deal with affected sufferers. during this new version, forty seven extra genetic issues are additional, in addition to vast updates made to the former problems. New illustrations, as earlier version, can be supplemented by way of case and family members historical past, medical gains, and laboratory info, particularly molecular confirmation.

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Journal of Medical Genetics, 25, 857–859. , Hirsch, J. , et al. (1980). Hydrocephalus and achondroplasia. A study of 25 observations. Child’s Brain, 7, 205–219. , Kilpatrick, M. , et al. (1994). A novel G346E mutation in achondroplasia. Pediatric Research, 37, 151. , & Stheneur, C. (2008). Achondroplasia: From genotype to phenotype. Joint, Bone, Spine, 75, 125–130. Rimoin, D. L. (1991). Limb lengthening: Past, present, and future. Growth Genetics and Hormones, 7, 4–6. , et al. (1994). Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

Huyke, B. , et al. (1988). Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome– McKusick 10030): Further suggestion of autosomal recessive inheritance. American Journal of Medical Genetics, 29, 263–268. , et al. (1988). Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): Report of ten cases and review of the literature. American Journal of Medical Genetics, 31, 99–115. Lin, A. , Wesgate, M. , van der Velde, M. , et al. (1998). Adams-Oliver syndrome associated with cardiovascular malformation.

Nail hypoplasia ii. Cutaneous syndactyly iii. Bony syndactyly iv. Ectrodactyly v. Brachydactyly e. Severe spectrum of transverse defects i. Absence of the hand H. 1007/978-1-4614-1037-9_4, # Springer Science+Business Media, LLC 2012 35 36 ii. Absence of the foot iii. Absence of the limb 3. Aplasia cutis congenita a. Second most common defect (almost 75%) b. Associated with skull defect (64%): the most common site is the vertex, often with scalp defect extending to periosteum, skull, and dura i.

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Atlas of Genetic Diagnosis and Counseling by Harold Chen

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