Rubinstein-Taybi syndrome and pheochromocytoma.
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Biomedical subjects
Publications and source records attributed to E Bonioli.
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The authors describe a case of follicular cyst of the jaw diagnosed in a male infant who was 2 years and 4 months old. The authors discuss recent advances in the classification of this disorder and the difficulties that arise in performing differential diagnosis; some peculiar features of the described case are discussed.
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A case of trisomy of chromosome No. 10 in mosaic is described in a boy who died at the age of 6 months. The frequency of pathological cells is less than 30% (28% from lymphocytes, 20% from fibroblasts); it is possible, anyway, to rule out the hypothesis of a cellular cloning in vitro, since the trisomy 10 was observed in two different cultures, terminated after 48 and 72 hours. The parents' karyotype was normal, except for a litte number (6%) of cells with trisomy 10 from cultured lymphocytes of the mother. The morphological features of the present case are compared with those of the boy described by Higurashi et al. in 1969 (mosaic of trisomy 10, with a higher frequency of pathological cells).
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