Fragility and spiralization anomalies of the chromosomes in three cases, including fraternal twins, with Fanconi's anemia, type Estren-Dameshek.
Fraternal twins, offspring of consanguineous parents, developed pancytopenia, the boy at 7, the girl at 12 years of age. A third patient became anemic at 3 years. All three are free of associated malformations. In blood cultures the incidence of chromatid breaks, exchanges, and chromosome-type aberrations was elevated to 24%, 18%, and 28%, respectively. In addition, in a low number of mitotic cells unusual observations, pointing to profound disturbances of chromosome structure, were made. It is suggested that these patients have a genetic defect impairing the normal process of mitotic chromosome condensation and decondensation.
D000293:Adolescent; D000741:Anemia, Aplastic / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003241:Consanguinity; D004200:Diseases in Twins; D005199:Fanconi Anemia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male