Atlas of Genetic Diagnosis and Counseling reflects the authors 38 year experience in clinical genetics practice incorporating clinical photographs of pateints to illustrate selected genetic disorders and congenital malformations. A detailed outline of each disorder is provided describing the genetic/basic defects, clinical features, diagnostic investigations, and genetic counseling including recurrence risk, prenatal diagnosis, and management. Color photographs are used to illustrate the findings in different age groups and ethnicities. The Atlas also includes photographs of prenatal ultrasound, imagings, molecular, cytogenetic, and post-mortem findings to help illustrate diagnostic strategies and trying to gap the basic science and clinical medicine. An extensive literature review is included to ensure up-to-date information and to provide a relevant bibliography for each disorder. This important Atlas will help physicians in their recognition and understanding of these conditions and their care of affected individuals and families.
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