Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma

This is the first reported case of an unbalanced chromosome rearrangement resulting in trisomy 5q35.5-->qter and monosomy 16p 13.3-->pter, in a boy with mental and growth retardation, minor anomalies, and a history of bilateral papillary thyroid carcinoma. This was the result of a familial balanced translocation. The clinical and cytogenetic manifestations of the case are presented and the possible role of the chromosomal rearrangement in the etiology of the thyroid carcinoma is discussed.