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A Case of Trisomy 16-18 Syndrome: Speculation on Pathogenesis of Chromosome-Induced Malformations

A Case of Trisomy 16-18 Syndrome: Speculation on Pathogenesis of Chromosome-Induced Malformations Abstract Over 30 cases of group 16-18 trisomy syndrome have been reported. The most common defects are summarized in the Table. Included in these defects are structures derived from all three primary germ layers. Clinically, these infants can be recognized by the abnormally shaped skull, low-set ears, micrognathia, and peculiar flexion deformities of the fingers. The following report describes an additional case of trisomy 17 and speculates upon the production of the derangements observed. Report of Case The patient was a Caucasian female born Nov 28, 1962. Labor was spontaneous and uneventful after a 37-week gestation. The placenta was reported to be very small. Examination revealed a scrawny infant weighing 3 lb 12 oz (1.7 kg) and measuring 18 inches. The head was 13 inches in circumference and was oddly shaped. The face was narrow and the jaw underdeveloped. The thorax appeared unexpanded, and there were many rales throughout both lungs. References 1. Moorhead, P. S.; Nowell, P. C.; Mellman, W. J.; Battips, D. M.; and Hungerford, D. A.: Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exp Cell Res 20: 613, 1960.Crossref 2. Smith, D. W.; Patau, K.; Therman, E.; and Inhorn, S. J.: The No. 18 Trisomy Syndrome , J Pediat 60:513, 1962.Crossref 3. Moscona, A. A.: How Cells Associate , Sci Amer 205:143 ( (Sept) ) 1961.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

A Case of Trisomy 16-18 Syndrome: Speculation on Pathogenesis of Chromosome-Induced Malformations

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References (3)

Publisher
American Medical Association
Copyright
Copyright © 1964 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1964.02080060302015
Publisher site
See Article on Publisher Site

Abstract

Abstract Over 30 cases of group 16-18 trisomy syndrome have been reported. The most common defects are summarized in the Table. Included in these defects are structures derived from all three primary germ layers. Clinically, these infants can be recognized by the abnormally shaped skull, low-set ears, micrognathia, and peculiar flexion deformities of the fingers. The following report describes an additional case of trisomy 17 and speculates upon the production of the derangements observed. Report of Case The patient was a Caucasian female born Nov 28, 1962. Labor was spontaneous and uneventful after a 37-week gestation. The placenta was reported to be very small. Examination revealed a scrawny infant weighing 3 lb 12 oz (1.7 kg) and measuring 18 inches. The head was 13 inches in circumference and was oddly shaped. The face was narrow and the jaw underdeveloped. The thorax appeared unexpanded, and there were many rales throughout both lungs. References 1. Moorhead, P. S.; Nowell, P. C.; Mellman, W. J.; Battips, D. M.; and Hungerford, D. A.: Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exp Cell Res 20: 613, 1960.Crossref 2. Smith, D. W.; Patau, K.; Therman, E.; and Inhorn, S. J.: The No. 18 Trisomy Syndrome , J Pediat 60:513, 1962.Crossref 3. Moscona, A. A.: How Cells Associate , Sci Amer 205:143 ( (Sept) ) 1961.Crossref

Journal

American Journal of Diseases of Children – American Medical Association

Published: Mar 1, 1964

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