Autosomal Recessive Inheritance
نویسندگان
چکیده
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see http://journals.sagepub.com/doi/10.1177/2374289517715040.
منابع مشابه
Osteopetrosis a report of two Iranian patients with autosomal recessive inheritance pattern
In the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia and nerve entrapment accounts for p...
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Limitation of family size after the birth of a child with a serious disorder poses a problem in demonstrating autosomal recessive inheritance. In this paper methods are presented for distinguishing autosomal recessive inheritance given a 100% deterrent effect, and revealing a partial deterrent effect by analysis of sibship size and comparison with general population data. These methods are illu...
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