بررسي سيتوژنتيك 501 بيمار مشكوك به فانكوني

Report of cytogenetic analysis of 501 patients to detect Fanconi anemia

Fanconi anemia (FA) is an autosomal recessive disorder associated with bone marrow failure and severe birth defects. Early diagnosis of FA permits the proper management of hematologic disease, completion of elective surgery before thrombocytopenia ensues, appropriate genetic counseling, identification of unaffected siblings or pregnancies who might serve as donors for hematopoietic stem/progenitor cells for an FA patient with bone marrow disease, and targeted cancer surveillance. Cytogenetic analysis is the most classical and available test for FA, which involves detection of chromosomal breakage or aberrations in metaphase spreads. We have experienced cytogenetic chromosomal breakage analysis of FA cases for more than 20 years. According to our computerized data, we have received 501 patients (294, 59% male) who were referred to our center for chromosomal breakage study. Cytogenetic analysis of the cases revealed multiple breakages and rearrangements in 92 cases (18%) compatible with Fanconi anemia and normal karyotype were detected in 385 cases (77%). The remaining 24 cases (5%) were failed in culture due to low number of WBC count. Among FA positive cases 50 (54%) were female and 42 (46%) were male