منابع مشابه
Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis
Fanconi anemia (FA) is a rare inherited syndrome with diverse clinical symptoms including developmental defects, short stature, bone marrow failure, and a high risk of malignancies. Fifteen genetic subtypes have been distinguished so far. The mode of inheritance for all subtypes is autosomal recessive, except for FA-B, which is X-linked. Cells derived from FA patients are-by definition-hypersen...
متن کاملFanconi anemia
What is it? Fanconi anemia (FA) is an autosomal recessive human disease characterized by congenital malformations, bone marrow failure and cancer. FA patients often develop leukemia and/or squamous cell carcinomas of the head and neck or gynecologic system. FA cells are hypersensitive to DNA crosslinking agents, such as mitomycin C (MMC) or diepoxybutane (DEB), and the syndrome is believed to r...
متن کاملFanconi Anemia: Guidelines for Diagnosis and Management, Fourth Edition
This chapter will explore the underlying molecular and genetic processes by which FA contributes to conditions such as bone marrow failure, leukemia, squamous cell carcinoma, endocrine abnormalities, and mild-to-severe birth defects (1-3). In general, these conditions arise from genetic mutations that cause chromosome instability and reduce the cell’s ability to repair damage to DNA. At publica...
متن کاملFrequency of Hypothyroidism in Fanconi Anemia
Background: Fanconi anemia (FA) is a rare, autosomal recessive (AR) and multifactorial disorder. A high prevalence of FA observed in Iran is perhaps due to the high rate of consanguineous marriages. This study investigates the extent of short stature in patients with FA, the frequency of hypothyroidism in FA and the correlation between height and hypothyroidism. Methods: Eighteen patients with ...
متن کاملMutated Fanconi anemia pathway in non-Fanconi anemia cancers
An extremely high cancer incidence and the hypersensitivity to DNA crosslinking agents associated with Fanconi Anemia (FA) have marked it to be a unique genetic model system to study human cancer etiology and treatment, which has emerged an intense area of investigation in cancer research. However, there is limited information about the relationship between the mutated FA pathway and the cancer...
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ژورنال
عنوان ژورنال: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
سال: 2009
ISSN: 0027-5107
DOI: 10.1016/j.mrfmmm.2009.01.013