Fanconi anemia
نویسنده
چکیده
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 result from a defect in DNA repair.
منابع مشابه
Fanconi Anemia Concurrent with an Unusual Thumb Polydactyly: A Case Report
This case report presents a case of Fanconi’s Anemia with an unusual thumb polydactyly in a 2-year old boy. The extra thumb had no nail, nail bed and distal phalanx. The extra thumb had no active motion.The duplication of the thumb occurred at the carpometacarpal joint but its morphology did not match with any classification described for thumb polydactyly. Although his thumb polydactyly was ...
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 کاملبررسی بالینی و بقای 36 کودک مبتلا به آنمی فانکونی
Fanconi anemia is the most prevalent form of inherited aplastic anemia which is characterized by progressive bone marrow failure, congenital anomalies and cancer susceptibility. Common anomalies are skeletal abnormalities, skin pigmentation disorder, short stature, head abnormalities, kidney and gonad disorders respectively. Complications of fanconi anemia include: leukemia due to defective DNA...
متن کاملگزارش یک مورد اسکواموس سل کارسینوما در یک زن جوان با سابقه آنمی فانکونی (Fanconi's anemia)
Fanconi syndrome was first described in 1927 by G.Fanconi. Fanconi syndrome with congenital aplastic anemia is a hereditary disorder in which peripheral blood Pancytopenia and bone marrow hypoplasiais often associated with multiple somatic congenital malformations such as microcephaly, skeletal anomalies (absence or hypoplasia of radial or thumb or both of them), brown hyperpigmentation of the ...
متن کاملDNA Damage in Leukocytes from Fanconi Anemia (FA) Patients and Heterozygotes Induced by Mitomycin C and Ionizing Radiation as Assessed by the Comet and Comet-FISH Assay
Background: Lymphocytes of Fanconi anemia (FA) show an increased sensitivity to the alkylating agents such as mitomycin C (MMC), but their responses to gamma-irradiation is controversial. The extent of DNA damage in leukocytes of FA patients following irradiation and MMC treatment was studied at cellular and single chromosome level. Methods: DNA damage induced by gamma-rays and MMC was measure...
متن کاملOral human papillomavirus is common in individuals with Fanconi anemia.
BACKGROUND Fanconi anemia is a rare genetic disorder resulting in a loss of function of the Fanconi anemia-related DNA repair pathway. Individuals with Fanconi anemia are predisposed to some cancers, including oropharyngeal and gynecologic cancers, with known associations with human papillomavirus (HPV) in the general population. As individuals with Fanconi anemia respond poorly to chemotherapy...
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عنوان ژورنال:
- Current Biology
دوره 13 شماره
صفحات -
تاریخ انتشار 2003