Monozygotic twin girls with congenital malformations resembling fanconi anemia.

摘要: Monozygotic (MZ) twin girls, diagnosed at birth to have Fanconi anemia (FA) on the basis of multiple anomalies and an apparently increased baseline chromosomal breakage frequency in one twin, been followed prospectively for 13 years. They not developed aplastic or other hematologic manifestations FA. There was no evidence diepoxybutane (DEB)-induced either when studies were repeated Denver as well New York. Since cellular phenotype must be considered establishing diagnosis FA, these MZ twins should classified affected with Using scoring system FA by Auerbach et al. [1989], probability coefficients their having based solely clinical findings, prior DEB testing, .75 .92, respectively. When combination are taken together, coefficient is .98. Through International Registry, 15 additional patients identified score greater, but who negative. These patients, described this report, most likely a heterogeneous group may represent syndromes like Holt-Oram, VATER, VACTERL IVIC, genetic nongenetic etiologies. cases demonstrate importance testing DNA crosslinking agent order discriminate between similar phenotype.