{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T16:03:10Z","timestamp":1775232190336,"version":"3.50.1"},"reference-count":18,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1974,12]]},"abstract":"<jats:p>A 20-month-old female infant with complete monosomy 21 is described. She has marked mental and physical retardation, antimongoloid slant, low set ears, micrognathia, syndactyly of the toes, and cardiac abnormalities. Karyotypes of fibroblasts and lymphocytes, examined with Giemsa banding, quinacrine banding, and reversed banding techniques revealed no evidence of translocation.<\/jats:p>","DOI":"10.1136\/jmg.11.4.386","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"386-389","source":"Crossref","is-referenced-by-count":39,"title":["21 Monosomy in a retarded female infant"],"prefix":"10.1136","volume":"11","author":[{"given":"Katherine H.","family":"Halloran","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. Roy","family":"Breg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurice J.","family":"Mahoney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1974,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2000","DOI":"10.1172\/JCI106692","article-title":"Progeria: a cell culture study on aging","volume":"50","author":"Danes, B.S.","year":"1971","unstructured":"Danes, B. S. (1971). Progeria: a cell culture study on aging. Journal of Clinical Investigation, 50, 2000-2003.","journal-title":"Journal of Clinical Investigation"},{"key":"ref_2","first-page":"697","article-title":"The Hutchinson-Gilford progeria syndrome","volume":"80","author":"De Busk, F.L.","year":"1972","unstructured":"De Busk, F. L. (1972). The Hutchinson-Gilford progeria syndrome. J7ournal ofPediatrics, 80, 697-724.","journal-title":"J7ournal"},{"key":"ref_3","first-page":"553560","article-title":"Progeria. Case report with long-term studies of serum lipids","volume":"45","author":"Macnamara, G.P.; Farn, K.T.; Mitra, A.K.; Lloyd, J.K.; Fosbrooke, A.S.","year":"1970","unstructured":"Macnamara, G. P., Farn, K. T., Mitra, A. K., Lloyd, J. K., and Fosbrooke, A. S. (1970). Progeria. Case report with long-term studies of serum lipids. Archives of Disease in Childhood, 45, 553560.","journal-title":"Archives of Disease in Childhood"},{"key":"ref_4","first-page":"147","article-title":"Prog6ria. Revista do Hospital das Clinicas da Faculdade de Medicina de Sao","volume":"24","author":"Marcondes, E.; Campos, J.V.M.; Barbieri, D.; Quarentei, G.; Cavallo, A.","year":"1969","unstructured":"Marcondes, E., Campos, J. V. M., Barbieri, D., Quarentei, G., and Cavallo, A. (1969). Prog6ria. Revista do Hospital das Clinicas da Faculdade de Medicina de Sao Paulo, 24, 147-154.","journal-title":"Paulo"},{"key":"ref_5","article-title":"The child was born at 38 weeks' gestation following a pregnancy complicated by emotional and social problems in an unwed mother for whom there was no prenatal care. Delivery was normal and the baby weighed 1900 g and had a length of 46 cm. She had several generalized seizures during the first few days of life which were interpreted as secondary to hypoglycaemia and responded to therapy with glucose. At 3 weeks of age, evaluation of failure to thrive revealed absence of a G-group chromosome. Subsequently the child continued to show re-","unstructured":"The child was born at 38 weeks' gestation following a pregnancy complicated by emotional and social problems in an unwed mother for whom there was no prenatal care. Delivery was normal and the baby weighed 1900 g and had a length of 46 cm. She had several generalized seizures during the first few days of life which were interpreted as secondary to hypoglycaemia and responded to therapy with glucose. At 3 weeks of age, evaluation of failure to thrive revealed absence of a G-group chromosome. Subsequently the child continued to show re-"},{"key":"ref_6","article-title":"Cytogenetic studies Chromosome analysis was done on 115 cells from two blood cultures and 111 cells from a skin fibroblast culture. Two hundred and four cells had a chromosome count of 45 and 17 had a count of 44; no cell had 46 chromosomes or two No. 21 chromosomes. Metaphase cells from both the lymphocyte and fibroblast culture were examined using both quinacrine fluorescence and Giemsa-banding techniques. In addition, cells were examined by acridine orange fluorescence after heat treatment","volume-title":"This procedure produces chromosome banding patterns","year":"1972","unstructured":"Cytogenetic studies Chromosome analysis was done on 115 cells from two blood cultures and 111 cells from a skin fibroblast culture. Two hundred and four cells had a chromosome count of 45 and 17 had a count of 44; no cell had 46 chromosomes or two No. 21 chromosomes. Metaphase cells from both the lymphocyte and fibroblast culture were examined using both quinacrine fluorescence and Giemsa-banding techniques. In addition, cells were examined by acridine orange fluorescence after heat treatment (Bobrow, Collacott, and Madan, 1972). This procedure produces chromosome banding patterns"},{"key":"ref_7","article-title":"differentiation of complete from partial monosomy for chromosome 21 has been difficult. With banding techniques, some cases of apparent G monosomy have proved to have translocations resulting in only partial monosomy of chromosome 21 or 22 (Cohen and Putnam","volume-title":"Even with quinacrine and Giemsa banding, the translocated distal segment of the long arm may not be found since it stains less intensely. However, a translocated portion may become apparent with reverse Giemsa banding since the ends then will stain positively, as shown by Dutrillaux et","author":"al","year":"1972","unstructured":"In all reported cases, differentiation of complete from partial monosomy for chromosome 21 has been difficult. With banding techniques, some cases of apparent G monosomy have proved to have translocations resulting in only partial monosomy of chromosome 21 or 22 (Cohen and Putnam, 1972). Even with quinacrine and Giemsa banding, the translocated distal segment of the long arm may not be found since it stains less intensely. However, a translocated portion may become apparent with reverse Giemsa banding since the ends then will stain positively, as shown by Dutrillaux et al (1973)"},{"key":"ref_8","article-title":"cases with an apparent deletion of a G-group chromosome have been classified into G deletion syndrome I (loss of material from chromosome 21) and G deletion syndrome II (loss of material from chromosome 22) (Richmond et al","volume-title":"Mental and physical retardation, microcephaly, musculoskeletal abnormalities, and low set ears are common to both deletion syndromes. Epicanthal folds, ptosis, a flat nasal bridge, and cutaneous syndactyly are features of syndrome II, while an antimongoloid slant, large ears, protruding nose, micrognathia, simian creases, and cardiac and renal anomalies are characteristic of syndrome I","author":"Clinically","year":"1973","unstructured":"Clinically, cases with an apparent deletion of a G-group chromosome have been classified into G deletion syndrome I (loss of material from chromosome 21) and G deletion syndrome II (loss of material from chromosome 22) (Richmond et al, 1973). Mental and physical retardation, microcephaly, musculoskeletal abnormalities, and low set ears are common to both deletion syndromes. Epicanthal folds, ptosis, a flat nasal bridge, and cutaneous syndactyly are features of syndrome II, while an antimongoloid slant, large ears, protruding nose, micrognathia, simian creases, and cardiac and renal anomalies are characteristic of syndrome I. Both this case and that of Gripenberg et al (1972) resemble syndrome I more than syndrome II. An infant recently reported to have monosomy 22 had congenital heart disease but lacked the epicanthus and syndactyly of syndrome II (DeCicco et al, 1973). Hence these distinctions need further refinement and correlation with karyotypes if they are to prove useful for clinical diagnosis."},{"key":"ref_9","article-title":"Since Lejeune et","volume-title":"first reported a case with a mosaic of cells with 45 chromosomes and a missing G chromosome and cells with 46 chromosomes with a deleted G, a number of such mosaic","author":"al","year":"1964","unstructured":"Since Lejeune et al (1964) first reported a case with a mosaic of cells with 45 chromosomes and a missing G chromosome and cells with 46 chromosomes with a deleted G, a number of such mosaic"},{"key":"ref_10","first-page":"1311","article-title":"Chromosome banding with acridine orange","volume":"2","author":"Bobrow, M.; Collacott, H.E.A.C.; Madan, K.","year":"1972","unstructured":"Bobrow, M., Collacott, H. E. A. C., and Madan, K. (1972). Chromosome banding with acridine orange. Lancet, 2, 1311.","journal-title":"Lancet"},{"key":"ref_11","first-page":"908","article-title":"An 18p21q translocation in a patient with presumptive 'Monosomy G'","volume":"124","author":"Cohen, M.M.; Putnam, T.I.","year":"1972","unstructured":"Cohen, M. M. and Putnam, T. I. (1972). An 18p21q translocation in a patient with presumptive 'Monosomy G'. American Journal of Diseases of Children, 124, 908-910.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"178","DOI":"10.5694\/j.1326-5377.1973.tb128755.x","article-title":"Monosomy of a 'G' autosome in a 22-year-old female","volume":"2","author":"Cooksley, W.G.E.; Firouz-Abadi, A.; Wallace, D.C.","year":"1973","unstructured":"Cooksley, W. G. E., Firouz-Abadi, A., and Wallace, D. C. (1973). Monosomy of a 'G' autosome in a 22-year-old female. Medical Journal of Australia, 2, 178-180.","journal-title":"Medical Journal of Australia"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1016\/S0022-3476(73)80382-8","article-title":"Monosomy of chromosome No. 22: a case report","volume":"83","author":"DeCicco, F.; Steele, M.W.; Pan, S.; Park, S.C.","year":"1973","unstructured":"DeCicco, F., Steele, M. W., Pan, S., and Park, S. C. (1973). Monosomy of chromosome No. 22: a case report. Journal of Pediatrics, 83, 836-838.","journal-title":"Journal of Pediatrics"},{"key":"ref_14","first-page":"11","article-title":"An unbalanced 4q\/21q translocation identified by the R but not by the G and Q chromosome banding techniques","volume":"16","author":"Dutrillaux, B.; Jonasson, J.; Lauren, K.; Lejeune, J.; Lindsten, J.; Petersen, G.B.; Saldania-Garcia, P.","year":"1973","unstructured":"Dutrillaux, B., Jonasson, J., Lauren, K., Lejeune, J., Lindsten, J., Petersen, G. B., and Saldania-Garcia, P. (1973). An unbalanced 4q\/21q translocation identified by the R but not by the G and Q chromosome banding techniques. Annales de Ginitique, 16, 11-16.","journal-title":"Annales de Ginitique"},{"key":"ref_15","first-page":"110","article-title":"A 45, XX,21 - child: attempt at cytological and clinical interpretation of the karyotype","volume-title":"J7ournal of Medical Genetics","volume":"9","author":"Gripenberg, U.; Elfving, J.; Gripenberg, L.","year":"1972","unstructured":"Gripenberg, U., Elfving, J., and Gripenberg, L. (1972). A 45,XX,21 - child: attempt at cytological and clinical interpretation of the karyotype. J7ournal of Medical Genetics, 9, 110-115."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1111\/j.1651-2227.1973.tb08096.x","article-title":"A 'G' deletion syndrome, anti-mongolism","volume":"62","author":"Richmond, H.G.; MacArthur, P.; Hunter, D.","year":"1973","unstructured":"Richmond, H. G., MacArthur, P., and Hunter, D. (1973). A 'G' deletion syndrome, anti-mongolism. Acta Paediatrica Scandinavica, 62, 216-220.","journal-title":"Acta Paediatrica Scandinavica"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1159\/000130162","article-title":"Study of a patient with apparent monosomy 21 owing to translocation: 45, XX,21-, t(18q +)","volume":"10","author":"Wyandt, H.E.; Hecht, F.; Louvrien, E.W.; Stewart, R.E.","year":"1971","unstructured":"Wyandt, H. E., Hecht, F., Louvrien, E. W., and Stewart, R. E. (1971). Study of a patient with apparent monosomy 21 owing to translocation: 45,XX,21-,t(18q +). Cytogenetics, 10, 413-426.","journal-title":"Cytogenetics"},{"key":"ref_18","article-title":"An infant with antimongoloid eye slants, achalasia, broad nose, one low-set large and one rudimentary ear lobe, and rudimentary nails with a retarded psychomotor development showed an 45, XX, - 21\/46, XX,21q karyotype. By fluorescence and Giemsa staining it was shown that the missing or deleted chromosome 21 was of paternal origin","volume-title":"Received","author":"Summary","year":"1974","unstructured":"Summary. An infant with antimongoloid eye slants, achalasia, broad nose, one low-set large and one rudimentary ear lobe, and rudimentary nails with a retarded psychomotor development showed an 45,XX, - 21\/46,XX,21q karyotype. By fluorescence and Giemsa staining it was shown that the missing or deleted chromosome 21 was of paternal origin. Received 11 January 1974."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.11.4.386","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:14:28Z","timestamp":1760771668000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.11.4.386"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1974,12]]},"references-count":18,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1974,12,1]]},"published-print":{"date-parts":[[1974,12]]}},"alternative-id":["10.1136\/jmg.11.4.386"],"URL":"https:\/\/doi.org\/10.1136\/jmg.11.4.386","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1974,12]]}}}