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March 1967

Three Unusual Trisomic Patterns in Children: Triple X Plus Triple E/Triple X Mosaic; Normal XY/D Trisomy Mosaic; Partial Trisomy With E Translocation

Am J Dis Child. 1967;113(3):322-328. doi:10.1001/archpedi.1967.02090180082006

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