Abstract
Fanconi anemia (FA) is a rare inherited genomic instability syndrome and usually associated with endocrine dysfunctions. We aimed to assess the diagnostic standards of chromosomal instability in FA and to correlate the breakage frequency with the severity of endocrinal dysfunctions. Twenty seven FA patients were randomly selected from Hematology Unit of Mansoura University Children's Hospital; their mean age 8.8 yr. Sixteen normal children matched for age and sex were used as controls. Cytogenetic studies included peripheral blood lymphocyte cultures using phytohemagglutinin to obtain chromosomal spreads. Chromosomal breakage was induced by (i) Diepoxybutane 0.1 mug/ml. (ii) Mitomycin C 0.1 microg/ml. (iii) Irradiation of cultures to four radiation doses; 75, 150, 300 and 400 rads (rad1, rad2, rad3 and rad4 respectively). Chromosomal aberrations were scored from the previous 6 cultures besides a culture for spontaneous chromosomal breakage; then mean chromosomal breakage was calculated for the seven cultures. Endocrinal evaluation included quantitative determination of thyroid stimulating hormone (TSH) and tetraiodothyronine (T4), serum growth hormone (GH), insulin like growth factor-1 (IGF-1) and insulin levels. Chromosomal br...Continue Reading
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