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A Child With Partial Deletion of a G-Group Autosome

A Child With Partial Deletion of a G-Group Autosome Abstract AUTOSOMAL MONOSOMY in man has been considered invariably lethal, although there are now reports of individuals with partial monosomy, or at least deletions of considerable portions of chromosomes 5 (Cri-du-chat),1 18,2,3 and 21 (antimongolism).4,5 Indeed, there recently has been a description of a child with clinical features of both Cri-du-chat and anti-mongolism, who had apparent deletions of both a B-group and a G-group chromosome.6 We have studied a child whose chromosomal constitution reveals a deficiency of the greater part of a G-group chromosome and most likely represents a partial monosomy of the number 22 chromosome. Report of a Case This 3-year-old white boy was referred to the Child Evaluation Center of the Department of Pediatrics, University of Louisville School of Medicine because of grand mal seizures, which began at about the second year of life. He was the only child of a 26-year-old father and 29-year-old References 1. Lejeune, J., et al: Trois cas de deletion partielle du bras court d'un chromosome 5 , CR Acad Sci 257:3098-3102, 1963. 2. Grouchy, J., et al: Dysmorphie complexe avec oligophrenie: deletion des bras comts d'un chromosome 17-18 , CR Acad Sci 256:1028-1029, 1963. 3. Uchida, I.A., et al: Familial Short Arm Deficiency of Chromosome 18 Concomitant With Arhinencephaly and Alopecia Congenita , Amer J Hum Genet 17:410-419, 1965. 4. Lejeune, J., et al: Monosomie partielle pour un petit acrocentrique , CR Acad Sci 259:4187-4190, 1964. 5. Reisman, L.E., et al: Anti-mongolism: Studies in an Infant With a Partial Monosomy of the 21 Chromosome , Lancet 1:394-397, 1966.Crossref 6. Engel, E., et al: Apparent Cri-du-chat and Anti-Mongolism in One Patient , Lancet 1:1130-1132, 1966.Crossref 7. Patau, K.: " Identification of Chromosomes " in Human Chromosomal Methodology , J.J. Yunis (ed.), New York: Academic Press, 1965, pp 155-186. 8. Yunis, J.J.; Hook, E.B.; and Mayer, M.: Identification of the Mongolism Chromosome by DNA Replication Analysis , Amer J Hum Genet 17: 191-201, 1965. 9. Gustavson, K.H., et al: An Apparently Identical Extra Autosome in Two Severely Retarded Sisters With Multiple Malformations , Cytogenetics 1:32-41, 1962.Crossref 10. Dunn, H.G., et al: Benign Congenital Hypotonia With Chromosomal Anomaly , Pediatrics 28: 578-59[ill] 1961. 11. Turner, B., and Jennings, A.N.: Trisomy for Chromosome 22 , Lancet 2:49, 1961.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

A Child With Partial Deletion of a G-Group Autosome

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References (12)

Publisher
American Medical Association
Copyright
Copyright © 1967 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1967.02090240150018
Publisher site
See Article on Publisher Site

Abstract

Abstract AUTOSOMAL MONOSOMY in man has been considered invariably lethal, although there are now reports of individuals with partial monosomy, or at least deletions of considerable portions of chromosomes 5 (Cri-du-chat),1 18,2,3 and 21 (antimongolism).4,5 Indeed, there recently has been a description of a child with clinical features of both Cri-du-chat and anti-mongolism, who had apparent deletions of both a B-group and a G-group chromosome.6 We have studied a child whose chromosomal constitution reveals a deficiency of the greater part of a G-group chromosome and most likely represents a partial monosomy of the number 22 chromosome. Report of a Case This 3-year-old white boy was referred to the Child Evaluation Center of the Department of Pediatrics, University of Louisville School of Medicine because of grand mal seizures, which began at about the second year of life. He was the only child of a 26-year-old father and 29-year-old References 1. Lejeune, J., et al: Trois cas de deletion partielle du bras court d'un chromosome 5 , CR Acad Sci 257:3098-3102, 1963. 2. Grouchy, J., et al: Dysmorphie complexe avec oligophrenie: deletion des bras comts d'un chromosome 17-18 , CR Acad Sci 256:1028-1029, 1963. 3. Uchida, I.A., et al: Familial Short Arm Deficiency of Chromosome 18 Concomitant With Arhinencephaly and Alopecia Congenita , Amer J Hum Genet 17:410-419, 1965. 4. Lejeune, J., et al: Monosomie partielle pour un petit acrocentrique , CR Acad Sci 259:4187-4190, 1964. 5. Reisman, L.E., et al: Anti-mongolism: Studies in an Infant With a Partial Monosomy of the 21 Chromosome , Lancet 1:394-397, 1966.Crossref 6. Engel, E., et al: Apparent Cri-du-chat and Anti-Mongolism in One Patient , Lancet 1:1130-1132, 1966.Crossref 7. Patau, K.: " Identification of Chromosomes " in Human Chromosomal Methodology , J.J. Yunis (ed.), New York: Academic Press, 1965, pp 155-186. 8. Yunis, J.J.; Hook, E.B.; and Mayer, M.: Identification of the Mongolism Chromosome by DNA Replication Analysis , Amer J Hum Genet 17: 191-201, 1965. 9. Gustavson, K.H., et al: An Apparently Identical Extra Autosome in Two Severely Retarded Sisters With Multiple Malformations , Cytogenetics 1:32-41, 1962.Crossref 10. Dunn, H.G., et al: Benign Congenital Hypotonia With Chromosomal Anomaly , Pediatrics 28: 578-59[ill] 1961. 11. Turner, B., and Jennings, A.N.: Trisomy for Chromosome 22 , Lancet 2:49, 1961.Crossref

Journal

American Journal of Diseases of Children – American Medical Association

Published: Sep 1, 1967

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