UNBALANCED 516 TRANSLOCATION IN A BOY WITH PAPILLARY THYROID-CARCINOMA

This is the first reported case of an unbalanced chromosome rearrangem ent resulting in trisomy 5q35.5-->qter and monosomy 16p 13.3-->pter, i n a boy with mental and growth retardation, minor anomalies, and a his tory of bilateral papillary thyroid carcinoma. This was the result of a familial balanced translocation. The clinical and cytogenetic manife stations of the case are presented and the possible role of the chromo somal rearrangement in the etiology of the thyroid carcinoma is discus sed. (C) 1994 Wiley-Liss, Inc.