FANCONI-ANEMIA COMPLEMENTATION GROUP-E - CLINICAL AND CYTOGENETIC DATA OF THE FIRST PATIENT

The clinical and cytogenetic data of the first patient proven to belon g to the fifth Fanconi anemia complementation group are described. The Turkish boy presented with psychomotoric retardation, growth retardat ion, retarded bone age, brachycephaly, hypotelorism, epicanthus, synda ctyly, brachydactyly, renal dystopia, and cryptorchism. In addition, a n asymmetrical skeletal anomaly was seen with a double distal phalanx of the left thumb and hypoplasia of the right thumb. Typical hematolog ical features of the disorder developed, at the age of 2.5 years, abou t 1 year after diagnosis. Cytogenetic studies confirmed the clinical d iagnosis and revealed a spontaneous chromosomal instability and hypers ensitivity to the cross-linking agents diepoxybutane and Trenimon. The findings in the patient, who is considered to be the standard for the fifth Fanconi anemia complementation group, are compared with data re ported for other patients affected with Fanconi anemia.