Three Unusual Trisomic Patterns in Children

Abstract

EXTENSIVE data and increasingly diversified patterns have accumulated since the first reports of chromosomal trisomies in man.^1-3 Cytogenetic studies, in addition to helping establish new clinical entities such as the D and E trisomies, have also revealed cases with either double aneuploidy⁴ or partial trisomy.⁵ Furthermore, in certain cases, the autosomal trisomic pattern has been seen to affect only a proportion of the body cells (mosaics).⁶ The following report deals with three rare cases of double, single, and partial trisomy, respectively. These patients, one of which was also a proven mosaic, serve to illustrate some aspects of the broadening spectrum of hyperdiploid states in man. Report of Cases Case 1.—An infant girl (Fig 1) was delivered to a 21-year-old gravida 1 at 43 weeks gestation. The delivery was breech, and prolonged resuscitation was necessary. The birthweight was 1,700 gm (3 lb 12 oz), the crown-heel length