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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

Author Affiliations

Nashville, Tenn
From the departments of medicine (Drs. Engel and Tipton, Messrs. McGee, Levrat and Engel-de Montmillon) and pediatrics (Dr. Overall), Vanderbilt University School of Medicine, the Department of Pathology (Dr. Lewis), St. Thomas Hospital, Nashville, Tenn, and the Pediatric Unit, Fort Campbell, Ky (Dr. Haddow). Dr. Lewis is now at the Department of Pathology, James Walker Memorial Hospital, Wilmington, NC.

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

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