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IgA Deficiency Associated With Partial Deletion of Chromosome 18

IgA Deficiency Associated With Partial Deletion of Chromosome 18 Abstract IN CONTRAST to the X chromosome, little is known about the autosomal loci for various genetic traits. Recently Gerald et al1 and Bloom et al2 have presented suggestive evidence that the controlling formation of locus the α-chain of haptoglobin is situated on one end of a No. 13 chromosome. We have studied two patients with chromosome defects and dysgammaglobulinemia. One had a No. 18 ring chromosome, which is formed by breakage in both arms with reunion of the broken ends and loss of a variable amount of material distal to each break. The other had a partial deletion of the long arm of the same chromosome. In both patients IgA was not detectable, and, in one, the level of IgG was very low. These patients are the first recognized examples of dysgammaglobulinemia associated with a chromosomal deletion. Report of Cases Case 1.—A 3-year-old white boy was first admitted to References 1. Gerald, P.S., et al: A Ring D Chromosome and Anomalous Inheritance of Haptoglobin Type , J Pediat 70:172-179 ( (Feb) ) 1967.Crossref 2. Bloom, G.E.; Gerald, P.S.; and Reisman, L.E.: Ring D Chromosome: A Second Case Associate With Anomalous Haptoglobin Inheritance , Science 156: 1746-1748 ( (June) ) 1967.Crossref 3. Scheidegger, J.J.: Une Micro-Méthode de l'Immune—Électro-Phorèse , Int Arch Allerg 7:103-110, 1955.Crossref 4. Bach, F., and Hirschhorn, K.: Lymphocyte Interaction: A Potential Histocompatibility Test in Vitro , Science 143:813-814, 1964.Crossref 5. Moorhead, P.S., et al: Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exp Cell Res 20:613-616, 1960.Crossref 6. Janeway, C.A., et al: The Gamma Globulins , Boston: Little, Brown & Co., 1967. 7. Rosen, F.S., et al: "The Dysgammaglobulinemias and X-Linked Thymic Hypoplasia," in Immunologic Deficiency Diseases in Man , New York: The National Foundation, 1968. 8. Gilbert, C., and Hong, R.: Qualitative Immunoglobulin Deficiency , Amer J Med 37:602-609 ( (Oct) ) 1964.Crossref 9. Bachmann, R.: Studies on Serum γ-A Globulin Level: III. Frequency of A-γ A-Globulinemia , Scand J Clin Lab Invest 17:316-320, 1965.Crossref 10. Young, R.; Austen, K.F.; and Moser, H.W.: Abnormalities of Serum-γ, A Globulin, and Ataxia Telangiectasia , Medicine 43:423-433 ( (May) ) 1964.Crossref 11. Hobbs, J.R.: Immune Imbalance in Dysgammaglobulinaemia Type IV , Lancet 1:110-114 ( (Jan 21) ) 1968.Crossref 12. Crabbé, P.A., and Heremans, J.F.: Selective IgA Deficiency With Steatorrhea , Amer J Med 42: 319-326 ( (Feb) ) 1967.Crossref 13. Eisen, A.H., et al: Immunologic Deficiency in Ataxia Telangiectasia , New Eng J Med 272:18-22 ( (June 7) ) 1965.Crossref 14. Leiken, S.L.; Bazelon, M.; and Park, K.H.: In Vitro Lymphocyte Transformation in Ataxia Telangiectasia , J Pediat 68:477-479 ( (March) ) 1966.Crossref 15. Hecht, F., et al: Leukemia and Lymphocytes in Ataxia Telangiectasia , Lancet 2:1193 ( (Nov) ) 1966.Crossref 16. Jacobs, J.C., et al: Complement Deficiency and Chromosomal Breaks in a Case of Swiss-Type Agammaglobulinemia , Lancet 1:499-503 ( (March 9) ) 1968.Crossref 17. Wang, H.C., et al: Ring Chromosomes in Human Beings , Nature 195:733-734 ( (Aug 18) ) 1962.Crossref 18. Lucas, M., et al: A Small Autosomal Ring Chromosome in a Female Infant With Congenital Malformations , Ann Hum Genet 27:189-195 ( (Nov) ) 1963.Crossref 19. Genest, P.; Leclerc, R.; and Auger, C.: Ring Chromosome and Partial Translocation in the Same Cell , Lancet 1:1426 ( (June 29) ) 1963.Crossref 20. Gropp, A.; Jussen, A.; and Ofteringer, K.: Multiple Congenital Anomalies Associated With a Partially Ring-Shaped Chromosome Probably Derived From Chromosome No. 18 in Man , Nature 202: 829-830 ( (May 23) ) 1964.Crossref 21. de Grouchy, J.: Chromosome 18: A Topologic Approach , J Pediat 66:414 ( (Feb) ) 1965.Crossref 22. Palmer, C.G.; Fareed, N.; and Merritt, A.D.: Ring Chromosome 18 in a Patient With Multiple Anomalies , J Med Genet 4:117-123 ( (June) ) 1967.Crossref 23. de Grouchy, J., et al: Délétion Partielle des Bras Longs du Chromosome 18 , Path Biol 12:579, 1964. 24. Lejeune, J., et al: La Délétion Partielle du Bras Long du Chromosome 18: Individualisation d'un Nouvel État Morbide , Ann Genet 9:32-38, 1966. 25. Insley, J.: Syndrome Associated With a Deficiency of Part of the Long Arm of Chromosome No. 18 , Arch Dis Child 42:140-146 ( (April) ) 1967.Crossref 26. Wertelecki, W.; Schindler, A.M.; and Gerald, P.S.: Partial Deletion of Chromosome 18: A Syndrome , Lancet 2:641 ( (Sept 17) ) 1966.Crossref 27. de Grouchy, J., et al: Dysmorphie Complexe Avec des Oligophrénie: Délétion des Bras Courts d'un Chromosomes 17-18 , C R Acad Sci 256:1028-1029, 1963. 28. Van Dyke, H.E.; Valdmanis, A.; and Mann, J.D.: Probable Deletion of the Short Arm of Chromosome 18 , Amer J Hum Genet 16:364-374, 1964. 29. Summit, R.L.: Deletion of the Short Arms of Chromosome 18 , Cytogenetics 3:201-206, 1964.Crossref 30. Faint, S., and Lewis, F.J.W.: Presumptive Deletion of the Short Arm of Chromosome 18 in a Cyclops , Hum Chromosome Newsletter 14:5-6, 1964. 31. Uchida, Q.A., et al: Familial Short Arm Deficiency of Chromosome 18 Concomitant With Arrhinencephaly and Alopecia Congenita , Amer J Hum Genet 17:410-419 ( (Sept) ) 1965. 32. Lejeune, J., et al: Sur un Cas de Deletion Partielle du Bras Court du Chromosome 18, Résultant d'une Translocation Familiale (18-17) , Ann de Genetique 9:27-31, 1966. 33. Migeon, B.R.: Short Arm Deletions in Group E and Chromosomal "Deletion" Syndrome , J Pediat 69:432-438 ( (Sept) ) 1966.Crossref 34. Nitowsky, H.M., et al: Partial 18 Monosomy in the Cyclops Malformation , Pediatrics 37:260-269 ( (Feb) ) 1966. 35. Gorlin, R.J.; Yunis, J.; and Anderson, V.E.: Short Arm Deletion of Chromosome 18 in Cebocephaly , Amer J Dis Child 115:473-476 ( (April) ) 1968. 36. Stiehm, E.R., and Fudenberg, H.H.: Serum Levels of Immune Globulins in Health and Disease: A Survey , Pediatrics 37:715-727 ( (May) ) 1966. 37. Feingold, M., et al: IgA Deficiency With Partial Deletion of Chromosome 18 , abstracted, J Clin Invest 47:34 ( (June) ) 1968. 38. Finley, S.C., et al: IgA Absence Associated With a Ring-18 Chromosome , Lancet 1:1095-1096 ( (May 18) ) 1968.Crossref 39. McKusick, V., et al: First Conference on Clinical Delineation of Birth Defects, The Johns Hopkins Hospital, May 24, 1968. 40. Stewart, J., et al: IgA and Partial Deletions of Chromosome 18 , Lancet 2:779 ( (Oct 5) ) 1968.Crossref 41. Richards, B.W., and Hobbs, J.R.: IgA and Ring-18 Chromosome , Lancet 1:1426-1427 ( (June 29) ) 1968.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

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American Medical Association
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Copyright © 1969 American Medical Association. All Rights Reserved.
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0002-922X
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10.1001/archpedi.1969.02100030131001
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Abstract

Abstract IN CONTRAST to the X chromosome, little is known about the autosomal loci for various genetic traits. Recently Gerald et al1 and Bloom et al2 have presented suggestive evidence that the controlling formation of locus the α-chain of haptoglobin is situated on one end of a No. 13 chromosome. We have studied two patients with chromosome defects and dysgammaglobulinemia. One had a No. 18 ring chromosome, which is formed by breakage in both arms with reunion of the broken ends and loss of a variable amount of material distal to each break. The other had a partial deletion of the long arm of the same chromosome. In both patients IgA was not detectable, and, in one, the level of IgG was very low. These patients are the first recognized examples of dysgammaglobulinemia associated with a chromosomal deletion. Report of Cases Case 1.—A 3-year-old white boy was first admitted to References 1. Gerald, P.S., et al: A Ring D Chromosome and Anomalous Inheritance of Haptoglobin Type , J Pediat 70:172-179 ( (Feb) ) 1967.Crossref 2. Bloom, G.E.; Gerald, P.S.; and Reisman, L.E.: Ring D Chromosome: A Second Case Associate With Anomalous Haptoglobin Inheritance , Science 156: 1746-1748 ( (June) ) 1967.Crossref 3. Scheidegger, J.J.: Une Micro-Méthode de l'Immune—Électro-Phorèse , Int Arch Allerg 7:103-110, 1955.Crossref 4. Bach, F., and Hirschhorn, K.: Lymphocyte Interaction: A Potential Histocompatibility Test in Vitro , Science 143:813-814, 1964.Crossref 5. Moorhead, P.S., et al: Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exp Cell Res 20:613-616, 1960.Crossref 6. Janeway, C.A., et al: The Gamma Globulins , Boston: Little, Brown & Co., 1967. 7. Rosen, F.S., et al: "The Dysgammaglobulinemias and X-Linked Thymic Hypoplasia," in Immunologic Deficiency Diseases in Man , New York: The National Foundation, 1968. 8. Gilbert, C., and Hong, R.: Qualitative Immunoglobulin Deficiency , Amer J Med 37:602-609 ( (Oct) ) 1964.Crossref 9. Bachmann, R.: Studies on Serum γ-A Globulin Level: III. Frequency of A-γ A-Globulinemia , Scand J Clin Lab Invest 17:316-320, 1965.Crossref 10. Young, R.; Austen, K.F.; and Moser, H.W.: Abnormalities of Serum-γ, A Globulin, and Ataxia Telangiectasia , Medicine 43:423-433 ( (May) ) 1964.Crossref 11. Hobbs, J.R.: Immune Imbalance in Dysgammaglobulinaemia Type IV , Lancet 1:110-114 ( (Jan 21) ) 1968.Crossref 12. Crabbé, P.A., and Heremans, J.F.: Selective IgA Deficiency With Steatorrhea , Amer J Med 42: 319-326 ( (Feb) ) 1967.Crossref 13. Eisen, A.H., et al: Immunologic Deficiency in Ataxia Telangiectasia , New Eng J Med 272:18-22 ( (June 7) ) 1965.Crossref 14. Leiken, S.L.; Bazelon, M.; and Park, K.H.: In Vitro Lymphocyte Transformation in Ataxia Telangiectasia , J Pediat 68:477-479 ( (March) ) 1966.Crossref 15. Hecht, F., et al: Leukemia and Lymphocytes in Ataxia Telangiectasia , Lancet 2:1193 ( (Nov) ) 1966.Crossref 16. Jacobs, J.C., et al: Complement Deficiency and Chromosomal Breaks in a Case of Swiss-Type Agammaglobulinemia , Lancet 1:499-503 ( (March 9) ) 1968.Crossref 17. Wang, H.C., et al: Ring Chromosomes in Human Beings , Nature 195:733-734 ( (Aug 18) ) 1962.Crossref 18. Lucas, M., et al: A Small Autosomal Ring Chromosome in a Female Infant With Congenital Malformations , Ann Hum Genet 27:189-195 ( (Nov) ) 1963.Crossref 19. Genest, P.; Leclerc, R.; and Auger, C.: Ring Chromosome and Partial Translocation in the Same Cell , Lancet 1:1426 ( (June 29) ) 1963.Crossref 20. Gropp, A.; Jussen, A.; and Ofteringer, K.: Multiple Congenital Anomalies Associated With a Partially Ring-Shaped Chromosome Probably Derived From Chromosome No. 18 in Man , Nature 202: 829-830 ( (May 23) ) 1964.Crossref 21. de Grouchy, J.: Chromosome 18: A Topologic Approach , J Pediat 66:414 ( (Feb) ) 1965.Crossref 22. Palmer, C.G.; Fareed, N.; and Merritt, A.D.: Ring Chromosome 18 in a Patient With Multiple Anomalies , J Med Genet 4:117-123 ( (June) ) 1967.Crossref 23. de Grouchy, J., et al: Délétion Partielle des Bras Longs du Chromosome 18 , Path Biol 12:579, 1964. 24. Lejeune, J., et al: La Délétion Partielle du Bras Long du Chromosome 18: Individualisation d'un Nouvel État Morbide , Ann Genet 9:32-38, 1966. 25. Insley, J.: Syndrome Associated With a Deficiency of Part of the Long Arm of Chromosome No. 18 , Arch Dis Child 42:140-146 ( (April) ) 1967.Crossref 26. Wertelecki, W.; Schindler, A.M.; and Gerald, P.S.: Partial Deletion of Chromosome 18: A Syndrome , Lancet 2:641 ( (Sept 17) ) 1966.Crossref 27. de Grouchy, J., et al: Dysmorphie Complexe Avec des Oligophrénie: Délétion des Bras Courts d'un Chromosomes 17-18 , C R Acad Sci 256:1028-1029, 1963. 28. Van Dyke, H.E.; Valdmanis, A.; and Mann, J.D.: Probable Deletion of the Short Arm of Chromosome 18 , Amer J Hum Genet 16:364-374, 1964. 29. Summit, R.L.: Deletion of the Short Arms of Chromosome 18 , Cytogenetics 3:201-206, 1964.Crossref 30. Faint, S., and Lewis, F.J.W.: Presumptive Deletion of the Short Arm of Chromosome 18 in a Cyclops , Hum Chromosome Newsletter 14:5-6, 1964. 31. Uchida, Q.A., et al: Familial Short Arm Deficiency of Chromosome 18 Concomitant With Arrhinencephaly and Alopecia Congenita , Amer J Hum Genet 17:410-419 ( (Sept) ) 1965. 32. Lejeune, J., et al: Sur un Cas de Deletion Partielle du Bras Court du Chromosome 18, Résultant d'une Translocation Familiale (18-17) , Ann de Genetique 9:27-31, 1966. 33. Migeon, B.R.: Short Arm Deletions in Group E and Chromosomal "Deletion" Syndrome , J Pediat 69:432-438 ( (Sept) ) 1966.Crossref 34. Nitowsky, H.M., et al: Partial 18 Monosomy in the Cyclops Malformation , Pediatrics 37:260-269 ( (Feb) ) 1966. 35. Gorlin, R.J.; Yunis, J.; and Anderson, V.E.: Short Arm Deletion of Chromosome 18 in Cebocephaly , Amer J Dis Child 115:473-476 ( (April) ) 1968. 36. Stiehm, E.R., and Fudenberg, H.H.: Serum Levels of Immune Globulins in Health and Disease: A Survey , Pediatrics 37:715-727 ( (May) ) 1966. 37. Feingold, M., et al: IgA Deficiency With Partial Deletion of Chromosome 18 , abstracted, J Clin Invest 47:34 ( (June) ) 1968. 38. Finley, S.C., et al: IgA Absence Associated With a Ring-18 Chromosome , Lancet 1:1095-1096 ( (May 18) ) 1968.Crossref 39. McKusick, V., et al: First Conference on Clinical Delineation of Birth Defects, The Johns Hopkins Hospital, May 24, 1968. 40. Stewart, J., et al: IgA and Partial Deletions of Chromosome 18 , Lancet 2:779 ( (Oct 5) ) 1968.Crossref 41. Richards, B.W., and Hobbs, J.R.: IgA and Ring-18 Chromosome , Lancet 1:1426-1427 ( (June 29) ) 1968.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Feb 1, 1969

References