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Chromosome Aberrations definition: Abnormal number or structure of chromosomes. Many chromosome aberrations, but not all, are the cause of CHROMOSOME DISORDERS.
chromosome aberration definition: irregularity in the number or structure of chromosomes that may alter the course of development.
Cytogenetic Abnormality definition: An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material.
Fanconi Anemia definition: Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Fanconi's anemia definition: A rare and often fatal inherited disease in which the bone marrow fails to produce red blood cells, white blood cells, platelets, or a combination of these cells. The disease may transform into myelodysplastic syndrome or leukemia.
Fanconi Anemia definition: Fanconi anemia (FA) is an autosomal recessive genetic disorder characterised clinically by progressive bone marrow failure, skeletal deformities and a predisposition to neoplasia. Patient cells manifest an extreme chromosomal instability and hypersensitivity to polyfunctional alkylating agents. It is assumed that the basic defect is related to the repair of DNA damage, in particular that of so-called DNA crosslinks. Currently there are eight complementation groups in FA (FA-A-FA-H) which indicates that at least eight independent genes can lead to FA. Three of these genes have been identified: FANCA, FANCC and FANCG. (from PMID 10472548)
SPONASTRIME (SPOndylar changes-NAsal anomaly-STRIated-MEtaphyses) definition: Short limb dwarfism, facial dysmorphism, striated metaphyses, saddle nose, and large head with frontal bossing. Normal intelligence was originally observed in the original report but severe mental retardation was reported in subsequent findings.