Elsevier

The Journal of Pediatrics

Volume 57, Issue 3, September 1960, Pages 338-345
The Journal of Pediatrics

A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome

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Summary

Two patients are described who died in early infancy. Each displayed similar complexes of congenital anomalies of which the following ones were found in both: low-set and malformed ears, small mandible, flexion deformities of the fingers, anomalous feet, interventricular septal defect, spasticity with probable mental defect, and diverticulum of the intestine.

The chromosome number was 47, the extra chromosome appearing to be the same one in each instance; it belongs to the E group in the classification of Patau and associates.1

The mothers of both patients were of advanced age at the time of conception.

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This investigation was supported in part by Grant No. C-3313 and Grant No. A-3645 from the National Institutes of Health, Public Health Service, and an Institutional Grant from the American Cancer Society Inc.

*

Department of Pediatrics, University Hospitals, 1300 University Avenue, Madison 6, Wis.

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