DENOVO TRISOMY-16Q11-]PTER

  • 1 January 1979
    • journal article
    • research article
    • Vol. 49  (1) , 1-6
Abstract
A de novo 16q-trisomy was found in an infant with severe mental retardation and mild physical abnormalties. A preliminary delineation the clinical features characteristic of trisomy 16q- is proposed, based upon comparison of the 2 cases identified so far. The mild phenotypic effects of this chromosome imbalance suggest that the alleged lethality of partial chromosome 16 aneuploidies should be reconsidered.