{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T05:05:32Z","timestamp":1770699932811,"version":"3.49.0"},"reference-count":38,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1972,3]]},"DOI":"10.1136\/jmg.9.1.102","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"102-105","source":"Crossref","is-referenced-by-count":23,"title":["Deletion of the long arms of chromosome 18 (46,XX,18q-) associated with absence of IgA and hypothyroidism in an adult."],"prefix":"10.1136","volume":"9","author":[{"given":"M J","family":"Faed","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Whyte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C R","family":"Paterson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"McCathie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1972,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1159\/000129767","article-title":"Microtechnique for culturing leukocytes from whole blood","volume":"2","author":"Arakaki, D.T.; Sparkes, R.S.","year":"1963","unstructured":"Arakaki, D. T. and Sparkes, R. S. (1963). Microtechnique for culturing leukocytes from whole blood. Cytogenetics, 2, 57-60.","journal-title":"Cytogenetics"},{"key":"ref_2","first-page":"397404","article-title":"Turner-Syndrom mit voll ausgebildenten sekundaren Geschlechtsmerkmalen und","volume":"35","author":"Bahner, F.; Schwarz, G.; Hienz, H.A.; Walter, K.","year":"1960","unstructured":"Bahner, F., Schwarz, G., Hienz, H. A., and Walter, K. (1960a). Turner-Syndrom mit voll ausgebildenten sekundaren Geschlechtsmerkmalen und Fertilitat. Acta Endocrinologica, 35, 397404.","journal-title":"Fertilitat. Acta Endocrinologica"},{"key":"ref_3","first-page":"100","article-title":"A fertile female with XO sex chromosome constitution","volume":"2","author":"Bahner, F.; Schwarz, G.; Harnden, D.G.; Jacobs, P.A.; Hienz, H.A.; Walter, K.","year":"1960","unstructured":"Bahner, F., Schwarz, G., Harnden, D. G., Jacobs, P. A., Hienz, H. A., and Walter, K. (1960b). A fertile female with XO sex chromosome constitution. Lancer, 2, 100-101.","journal-title":"Lancer"},{"key":"ref_4","first-page":"631","article-title":"The phenotype and gonadal histology in XO\/XY mosaic individuals: Report of two personal cases","volume":"76","author":"Campenhout, J.van; Lord, J.; Vauclair, R.; Lanthier, A.; Berard, M.","year":"1969","unstructured":"Campenhout, J. van, Lord, J., Vauclair, R., Lanthier, A., and Berard, M. (1969). The phenotype and gonadal histology in XO\/XY mosaic individuals: Report of two personal cases. journal of Obstetrics and Gynaecology, 76, 631-639.","journal-title":"journal of Obstetrics and Gynaecology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1941","DOI":"10.1001\/jama.1971.03180250033007","article-title":"Sex chromosome mosaicism (XO\/XX\/XXY\/XY) in a phenotypic female","volume":"215","author":"Kaufman, R.L.; Rimoin, L.; Woolf, R.B.; Warren, R.J.; Sly, W.S.","year":"1971","unstructured":"Kaufman, R. L., Rimoin, L., Woolf, R. B., Warren, R. J., and Sly, W. S. (1971). Sex chromosome mosaicism (XO\/XX\/XXY\/XY) in a phenotypic female. Journal of the American Medical Association, 215, 1941-1944.","journal-title":"Journal of the American Medical Association"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1530\/acta.0.0460341","article-title":"Turner's Syndrome with secondary amenorrhoea and sex chromosome mosaicism","volume":"46","author":"London, D.R.; Kemp, N.H.; Ellis, J.R.; Mittwoch, U.","year":"1964","unstructured":"London, D. R., Kemp, N. H., Ellis, J. R., and Mittwoch, U. (1964). Turner's Syndrome with secondary amenorrhoea and sex chromosome mosaicism. Acta Endocrinologica, 46, 341-351.","journal-title":"Acta Endocrinologica"},{"key":"ref_7","first-page":"412","article-title":"Der Status Bonnevie-Ullrich im Rahmen anderer 'Dyscranio-Dysphalangien'. Ergebnis innere Medizin und Kinderheilkunde, 2","author":"Ullrich, 0","year":"1951","unstructured":"Ullrich, 0. (1951). Der Status Bonnevie-Ullrich im Rahmen anderer 'Dyscranio-Dysphalangien'. Ergebnis innere Medizin und Kinderheilkunde, 2 (New Series), 412-466."},{"key":"ref_8","first-page":"818","article-title":"Tumer's phenotype with menstruation, XO karyotype and germ cells in the ovary","volume":"33","author":"Zarate, A.; Garcia-Reyes, J.A.; Castelazo-Ayala, C.; Estevez, R.; Silva, J.","year":"1969","unstructured":"Zarate, A., Garcia-Reyes, J. A., Castelazo-Ayala, C., Estevez, R., and Silva, J. (1969). Tumer's phenotype with menstruation, XO karyotype and germ cells in the ovary. Obstetrics and Gynecology, 33, 818-821.","journal-title":"Obstetrics and Gynecology"},{"key":"ref_9","article-title":"The serum immunoglobulins were examined on 4 occasions. At no time was IgA detectable by immunoelectrophoresis (Grabar and Burtin, 1964) on agar gel against specific antisera (Behringwerke AG, Marburg-Lahn, Germany). The IgG and IgM arcs appeared qualitatively normal. The serum concentrations of immunoglobulins were measured by single radial immunodiffusion (Mancini, Carbonara, and Heremans, 1965) in agar gel containing specific rabbit antisera against human immunoglobulins (Wellcome Reagents Ltd, Beckenham, England). The Wellcome antiserum to IgA appeared to be specific as it gave, on immunoelectrophoresis, a single arc with normal human serum. The results of the immunodiffusion measurements are shown in the Table","unstructured":"The serum immunoglobulins were examined on 4 occasions. At no time was IgA detectable by immunoelectrophoresis (Grabar and Burtin, 1964) on agar gel against specific antisera (Behringwerke AG, Marburg-Lahn, Germany). The IgG and IgM arcs appeared qualitatively normal. The serum concentrations of immunoglobulins were measured by single radial immunodiffusion (Mancini, Carbonara, and Heremans, 1965) in agar gel containing specific rabbit antisera against human immunoglobulins (Wellcome Reagents Ltd, Beckenham, England). The Wellcome antiserum to IgA appeared to be specific as it gave, on immunoelectrophoresis, a single arc with normal human serum. The results of the immunodiffusion measurements are shown in the Table. The IgA concentration (measured"},{"key":"ref_10","article-title":"Reprints from K.-M","volume-title":"G. at Med. Univ. Poliklink,","author":"Received","year":"1971","unstructured":"Reprints from K.-M. G. at Med. Univ. Poliklink, 7a, Robert Koch Strasse, D-3550 Marburg, Germany. Received 20 July 1971."},{"key":"ref_11","article-title":"on undiluted serum) was very low or undetectable. The concentration of IgG was raised. This increase in IgG was noted in one of the IgA-deficient patients of Hobbs","volume-title":"and might represent an antibody response to infections to which the IgA deficiency made the patient more susceptible. Indeed, during the period in which our patient's immunoglobulins were being estimated she had superficial or middle ear infections on several oc","year":"1968","unstructured":"on undiluted serum) was very low or undetectable. The concentration of IgG was raised. This increase in IgG was noted in one of the IgA-deficient patients of Hobbs (1968) and might represent an antibody response to infections to which the IgA deficiency made the patient more susceptible. Indeed, during the period in which our patient's immunoglobulins were being estimated she had superficial or middle ear infections on several oc-"},{"key":"ref_12","article-title":"casions and in October 1970 had an appendicectomy for acute appendicitis. This may also be relevant to the observed rise in IgM concentration although this remained within normal limits","unstructured":"casions and in October 1970 had an appendicectomy for acute appendicitis. This may also be relevant to the observed rise in IgM concentration although this remained within normal limits."},{"key":"ref_13","article-title":"Studies on serum vA globulin level","volume-title":"III.","author":"Bachmann, R.","year":"1965","unstructured":"Bachmann, R. (1965). Studies on serum vA globulin level. III."},{"key":"ref_14","first-page":"316","volume":"17","author":"of A-y A-globulinemia, Frequency","unstructured":"Frequency of A-y A-globulinemia. Scandinavian Journal of Clinical and Laboratory Investigation, 17, 316-320.","journal-title":"Scandinavian Journal of Clinical and Laboratory Investigation"},{"key":"ref_15","article-title":"Quoted by","author":"Daentle, D.; Smith, D.","year":"1968","unstructured":"Daentle, D. and Smith, D. (1968). Quoted by Stewart et al (1968)."},{"key":"ref_16","article-title":"IgA associated with partial deletion of chromosome 18","author":"Feingold, M.; Schwartz, R.S.; Atkins, L.; Anderson, R.; S., C.; Page, D.L.; Littlefield, J.W.","year":"1969","unstructured":"Feingold, M., Schwartz, R. S., Atkins, L., Anderson, R., C. S., Page, D. L., and Littlefield, J. W. (1969). IgA associated with partial deletion of chromosome 18."},{"key":"ref_17","first-page":"129","article-title":"Diseases of","volume":"117","author":"Journal of","unstructured":"Journal of Diseases of Children, 117, 129-136.","journal-title":"Children"},{"key":"ref_18","first-page":"1095","article-title":"IgA absence associated with a ring-18 chromosome","volume":"1","author":"Finley, S.C.; Finley, W.H.; Noto, T.A.; Uchida, I.A.; Roddam, R.F.","year":"1968","unstructured":"Finley, S. C., Finley, W. H., Noto, T. A., Uchida, I. A., and Roddam, R. F. (1968). IgA absence associated with a ring-18 chromosome. Lancet, 1, 1095-1096.","journal-title":"Lancet"},{"key":"ref_19","author":"Fischer, P.; W.; Golob, E.; Aichmair, Friedrich; H.","year":"1970","unstructured":"Fischer, P., W., and Golob, E., Aichmair, Friedrich, H. (1970)."},{"key":"ref_20","first-page":"91","article-title":"18p-: a new case report with absence of IgA in serum","volume":"7","author":"XX","unstructured":",XX,18p-: a new case report with absence of IgA in serum. Journal of Medical Genetics, 7, 91-98.","journal-title":"Journal of Medical Genetics"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1136\/jcp.14.6.654","article-title":"A stable sheep red cell preparation for detecting thyroglobulin auto-antibodies, and its clinical applications","volume":"14","author":"Fulthorpe, A.J.; Roitt, I.M.; Doniach, D.; Couchman, K.","year":"1961","unstructured":"Fulthorpe, A. J., Roitt, I. M., Doniach, D., and Couchman, K. (1961). A stable sheep red cell preparation for detecting thyroglobulin auto-antibodies, and its clinical applications. Journal of Clinical Pathology, 14, 654-660.","journal-title":"Journal of Clinical Pathology"},{"key":"ref_22","first-page":"8","article-title":"Genetic Markers in Human Blood","author":"Giblett, E.R.","year":"1969","unstructured":"Giblett, E. R. (1969). Genetic Markers in Human Blood, p. 8."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1136\/jcp.20.2.170","article-title":"Use of sephadex column chromatography in the assessment of thyroid status","volume":"20","author":"Gimlette, T.M.D.","year":"1967","unstructured":"Gimlette, T. M. D. (1967). Use of sephadex column chromatography in the assessment of thyroid status. Journal of Clinical Pathology, 20, 170-174.","journal-title":"Journal of Clinical Pathology"},{"key":"ref_24","article-title":"Immuno-electrophoretic Analysis","author":"Grabar, P.; Burtin, P.","year":"1964","unstructured":"Grabar, P. and Burtin, P. (eds.) (1964). Immuno-electrophoretic Analysis. Elsevier, Amsterdam, London, and New York."},{"key":"ref_25","first-page":"579","article-title":"Deletion partielle des bras long du chromosome 18","volume":"12","author":"Grouchy, J.de; Royer, P.; Salmon, C.; Lamy, M.","year":"1964","unstructured":"Grouchy, J. de, Royer, P., Salmon, C., and Lamy, M. (1964). Deletion partielle des bras long du chromosome 18. Pathologie et Biologie, 12, 579-582.","journal-title":"Pathologie et Biologie"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/S0140-6736(68)92721-9","article-title":"Immune imbalance in dysgammaglobulinaemia type IV","volume":"1","author":"Hobbs, J.R.","year":"1968","unstructured":"Hobbs, J. R. (1968). Immune imbalance in dysgammaglobulinaemia type IV. Lancet, 1, 110-114.","journal-title":"Lancet"},{"key":"ref_27","article-title":"Simplified radial immunodiffusion","volume":"68","author":"Hobbs, J.R.","year":"1970","unstructured":"Hobbs, J. R. (1970). Simplified radial immunodiffusion. Association of Clinical Pathologists Broadsheet, 68.","journal-title":"Association of Clinical Pathologists Broadsheet"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1136\/adc.42.222.140","article-title":"Syndrome associated with a deficiency of part of the long arm of chromosome No. 18","volume":"42","author":"Insley, J.","year":"1967","unstructured":"Insley, J. (1967). Syndrome associated with a deficiency of part of the long arm of chromosome No. 18. Archives of Disease in Childhood, 42, 140-146.","journal-title":"Archives of Disease in Childhood"},{"key":"ref_29","first-page":"32","article-title":"La deletion partielle du bras long du chromosome 18. Individualisation d'un nouvel etat morbide","volume":"9","author":"Lejeune, J.; Berger, R.; Lafourcade, J.; Rethore, M.-O.","year":"1966","unstructured":"Lejeune, J., Berger, R., Lafourcade, J., and Rethore, M.-O. (1966). La deletion partielle du bras long du chromosome 18. Individualisation d'un nouvel etat morbide. Annales de Genetique, 9, 32-38.","journal-title":"Annales de Genetique"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/0019-2791(65)90004-2","article-title":"Immunochemical quantitation of antigens by single radial immunodiffusion","volume":"2","author":"Mancini, G.; Carbonara, A.O.; Heremans, J.F.","year":"1965","unstructured":"Mancini, G., Carbonara, A. O., and Heremans, J. F. (1965). Immunochemical quantitation of antigens by single radial immunodiffusion. Immunochemistry, 2, 235-254.","journal-title":"Immunochemistry"},{"key":"ref_31","first-page":"303","article-title":"Partial E-18 long-arm deletion","volume":"1","author":"Nance, W.E.; Higdon, S.H.; Chown, B.; Engel, E.","year":"1968","unstructured":"Nance, W. E., Higdon, S. H., Chown, B., and Engel, E. (1968). Partial E-18 long-arm deletion. Lancet, 1, 303.","journal-title":"Lancet"},{"key":"ref_32","article-title":"Cited in Technicon Method Sheet, No. 56. Technicon Corporation","author":"Riley, M.; Gochman, N.","year":"1964","unstructured":"Riley, M. and Gochman, N. (1964). Cited in Technicon Method Sheet, No. 56. Technicon Corporation, Terrytown, New York."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1016\/S0140-6736(58)90530-0","article-title":"Human auto-immune thyroiditis: serological studies","volume":"2","author":"Roitt, I.M.; Doniach, D.","year":"1958","unstructured":"Roitt, I. M. and Doniach, D. (1958). Human auto-immune thyroiditis: serological studies. Lancet, 2, 1027-1033.","journal-title":"Lancet"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/S0140-6736(68)90985-9","article-title":"IgA and partial deletions of chromosome 18","volume":"2","author":"Stewart, J.; Go, S.; Ellis, E.; Robinson, A.","year":"1968","unstructured":"Stewart, J., Go, S., Ellis, E., and Robinson, A. (1968). IgA and partial deletions of chromosome 18. Lancet, 2, 779.","journal-title":"Lancet"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/S0140-6736(66)91964-7","article-title":"Partial deletion of chromosome 18","volume":"2","author":"Wertelecki, W.; Schindler, A.M.; Gerald, P.S.","year":"1966","unstructured":"Wertelecki, W., Schindler, A. M., and Gerald, P. S. (1966). Partial deletion of chromosome 18. Lancet, 2, 641.","journal-title":"Lancet"},{"key":"ref_36","article-title":"Deceased Pericentric inversions of autosomes have been reported infrequently in human subjects, and have been reviewed by Jacobs et","author":"al (1967), Weitkamp et al (1969), Crandal and Sparkes (1970), and Wilson et al","year":"1970","unstructured":"Deceased Pericentric inversions of autosomes have been reported infrequently in human subjects, and have been reviewed by Jacobs et al (1967), Weitkamp et al (1969), Crandal and Sparkes (1970), and Wilson et al (1970)."},{"key":"ref_37","article-title":"The pedigree of the family is shown in Fig. 1. The propositus, a male infant (III.3), was the product ofa full term pregnancy bom to a gravida 3, para 2 25-year-old Received 15","year":"1971","unstructured":"The pedigree of the family is shown in Fig. 1. The propositus, a male infant (III.3), was the product ofa full term pregnancy bom to a gravida 3, para 2 25-year-old Received 15 January 1971."},{"key":"ref_38","article-title":"was last admitted in June 1969 at 9 months of age because of cardiac failure and severe respiratory distress. He weighed 7-5 kg (< 3rd centile). A loud pansystolic murmur was heard best in the 4th left intercostal space","author":"He","unstructured":"He was last admitted in June 1969 at 9 months of age because of cardiac failure and severe respiratory distress. He weighed 7-5 kg (< 3rd centile). 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