{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:10:08Z","timestamp":1760764208591,"version":"build-2065373602"},"reference-count":19,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1972,12]]},"DOI":"10.1136\/jmg.9.4.474","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"474-478","source":"Crossref","is-referenced-by-count":11,"title":["Fanconi's anaemia: report of a patient with significant chromosomal abnormalities in bone marrow cells."],"prefix":"10.1136","volume":"9","author":[{"given":"M J","family":"Shahid","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F P","family":"Khouri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S K","family":"Ballas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1972,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1111\/j.1365-2141.1970.tb01603.x","article-title":"ChromoSOme studies on bone marrow from a male control population","volume":"19","author":"O'Riordan, M.L.; Berry, E.W.; Tough, I.M.","year":"1970","unstructured":"O'Riordan, M. L., Berry, E. W., and Tough, I. M. (1970). ChromoSOme studies on bone marrow from a male control population. British Journal of Haematology, 19, 83-90.","journal-title":"British Journal of Haematology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0022-3476(71)80064-1","article-title":"Fanconi's anemia with growth hormone deficiency","volume":"79","author":"Pochedly, C.; Collipp, P.J.; Wolman, S.R.; Suwansirikul, S.; Rezvani, I.","year":"1971","unstructured":"Pochedly, C., Collipp, P. J., Wolman, S. R., Suwansirikul, S., and Rezvani, I. (1971). Fanconi's anemia with growth hormone deficiency. Journal of Pediatrics, 79, 93-96.","journal-title":"Journal of Pediatrics"},{"key":"ref_3","first-page":"26","article-title":"The chromosomes and causation of human cancer and leukemia","author":"Sandberg, A.A.","year":"1966","unstructured":"Sandberg, A. A. (1966). The chromosomes and causation of human cancer and leukemia. Cancer Research, 26,2064-2081.","journal-title":"Cancer Research"},{"key":"ref_4","unstructured":"Case Report The patient, an 11-year-old male, was first seen at the paediatric service at the American University Hospital in September, 1966. His symptoms dated back to the age of 4 years, when he started having repeated attacks of easy bruising and bleeding from various sites (nose, urinary tract, rectum, and retina). Meanwhile he was noticed to develop progressive pallor which was not commensurate with the amount of blood loss. There was no history of exposure to drugs or bone marrow toxins.","article-title":"Case Report The patient, an 11-year-old male, was first seen at the paediatric service at the American University Hospital in September, 1966. His symptoms dated back to the age of 4 years, when he started having repeated attacks of easy bruising and bleeding from various sites (nose, urinary tract, rectum, and retina). Meanwhile he was noticed to develop progressive pallor which was not commensurate with the amount of blood loss. There was no history of exposure to drugs or bone marrow toxins"},{"article-title":"The family history disclosed consanguinity in the Received","year":"1972","key":"ref_5","unstructured":"The family history disclosed consanguinity in the Received 11 April 1972."},{"key":"ref_6","unstructured":"The clinical course of the patient over the past 31 years is outlined in Fig. 1. Initially he was treated with intramuscular testosterone and oral steroids. However, as there was no noticeable haematological improvement, testosterone was replaced by methandrostenolone* with subsequent progressive amelioration of the haemoglobin level. On the other hand, no change was noted in the leucocyte count. Follow-up examination of a bone marrow specimen in April 1970 revealed fair cellularity, with preponderance of the erythroid series but sparsity of megakaryocytes and platelets. Mitosis was seen in approximately 2% of cells, and was most prevalent","article-title":"The clinical course of the patient over the past 31 years is outlined in Fig. 1. Initially he was treated with intramuscular testosterone and oral steroids. However, as there was no noticeable haematological improvement, testosterone was replaced by methandrostenolone* with subsequent progressive amelioration of the haemoglobin level. On the other hand, no change was noted in the leucocyte count. Follow-up examination of a bone marrow specimen in April 1970 revealed fair cellularity, with preponderance of the erythroid series but sparsity of megakaryocytes and platelets. Mitosis was seen in approximately 2% of cells, and was most prevalent"},{"key":"ref_7","article-title":"first reported the presence of chromosomal aberrations, mainly gaps and breaks, in 1000 of marrow cells from a female patient with the disease. Likewise, Hirschman and his associates (1969) described changes in 2 brothers with constitutional aplastic anaemia, only one of whom had some of the associated malformations of Fanconi's syndrome. In this patient, 4% of the cells had breaks, fragments or extensive fragmentation, and an additional 40'","author":"Swift; Hirschhorn","year":"1966","unstructured":"' 1967 ' 1968"},{"key":"ref_8","article-title":"Note chromatid gap in a group B chromosome (curved dicentrics or rings. In the younger brother, breaks or fragments were seen in 1000 of cells. The authors, however, considered the prevalence of breaks in these two patients to be not clearly different from normal","author":"More; recently, Guanti; Petrinelli; Schettini","year":"1971","unstructured":"Swift and Hirschhorn (1966) first reported the presence of chromosomal aberrations, mainly gaps and breaks, in 1000 of marrow cells from a female patient with the disease. Likewise, Hirschman and his associates (1969) described changes in 2 brothers with constitutional aplastic anaemia, only one of whom had some of the associated malformations of Fanconi's syndrome. In this patient, 4% of the cells had breaks, fragments or extensive fragmentation, and an additional 40' contained f4w_~~","journal-title":"et al; recorded abnormalities in 20% of bone marrow mitoses from a girl with this disease. On the other hand, such changes could not be demonstrated in a number of other cases investigated"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1056\/NEJM196601062740102","article-title":"Chromosome abnormalities in constitutional aplastic anemia","volume":"274","author":"Bloom, G.E.; Warner, S.; Gerald, P.S.; Diamond, L.K.","year":"1966","unstructured":"Note chromatid gap in a group B chromosome (curved dicentrics or rings. In the younger brother, breaks or fragments were seen in 1000 of cells. The authors, however, considered the prevalence of breaks in these two patients to be not clearly different from normal. More recently, Guanti, Petrinelli, and Schettini (1971) recorded abnormalities in 20% of bone marrow mitoses from a girl with this disease. On the other hand, such changes could not be demonstrated in a number of other cases investigated (Bloom et al, 1966; Hoefnagel et al, 1966; Schmid, 1967; Dosik et al, 1970).","journal-title":"New Englandjournal of Medicine"},{"key":"ref_10","first-page":"341","article-title":"Leukemia in Fanconi's anemia: cytogenetic and tumour virus susceptibility studies","volume":"36","author":"Dosik, H.; Hsu, L.Y.; Todaro, G.J.; Lee, S.L.; Hirschhorn, K.; Selirio, E.S.; Alter, A.","year":"1970","unstructured":"Bloom, G. E., Warner, S., Gerald, P. S., and Diamond, L. K., (1966). Chromosome abnormalities in constitutional aplastic anemia. New Englandjournal of Medicine, 274, 8-14.","journal-title":"Blood. The Journal of Hematology"},{"key":"ref_11","first-page":"105111","article-title":"Chromosomal aberrations and abnormalities of red-cell metabolism in a case of Fanconi's anaemia before and after development of leukaemia","volume":"13","author":"Gmyrek, D.; Witkowski, R.; Syllm-Rapoport, I.; Jacobasch, G.","year":"1968","unstructured":"Dosik, H., Hsu, L. Y., Todaro, G. J., Lee, S. L., Hirschhorn, K., Selirio, E. S., and Alter, A. (1970). Leukemia in Fanconi's anemia: cytogenetic and tumour virus susceptibility studies. Blood. The Journal of Hematology, 36, 341-352.","journal-title":"German Medical Monthly"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1007\/BF00326946","article-title":"Cytogenetical and clinical investigations in aplastic anemia (Fanconi's type)","volume":"13","author":"Guanti, G.; Petrinelli, P.; Schettini, F.","year":"1971","unstructured":"Gmyrek, D., Witkowski, R., Syllm-Rapoport, I., and Jacobasch, G. (1968). Chromosomal aberrations and abnormalities of red-cell metabolism in a case of Fanconi's anaemia before and after development of leukaemia. German Medical Monthly, 13, 105111.","journal-title":"Humangenetik"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"107","DOI":"10.7326\/0003-4819-71-1-107","article-title":"Chromosomal aberrations in two cases of inherited aplastic anemia with unusual clinical features","volume":"71","author":"Hirschman, R.J.; Schuhman, N.R.; Abuelo, J.G.; WhangPeng, J.","year":"1969","unstructured":"Guanti, G., Petrinelli, P., and Schettini, F. (1971). Cytogenetical and clinical investigations in aplastic anemia (Fanconi's type). Humangenetik, 13, 222-233.","journal-title":"Annals of Internal Medicine"},{"key":"ref_14","first-page":"230238","article-title":"Panmyelopathy with congenital anomalies (Fanconi) in two cousins","volume":"21","year":"1966","unstructured":"Hirschman, R. J., Schuhman, N. R., Abuelo, J. G., and WhangPeng, J. (1969). Chromosomal aberrations in two cases of inherited aplastic anemia with unusual clinical features. Annals of Internal Medicine, 71, 107-117.","journal-title":"Helvetica Paediatrica Acta"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/0014-4827(60)90138-5","article-title":"Chromosome preparations of leukocytes cultured from human peripheral blood","volume":"20","author":"Moorhead, P.S.; Nowell, P.C.; Mellman, W.J.; Battips, D.M.; Hungerford, D.A.","year":"1960","unstructured":"Hoefnagel, D., Sullivan, M., McIntyre, 0. R., Gray, J. A., and Storrs, R. C. (1966). Panmyelopathy with congenital anomalies (Fanconi) in two cousins. Helvetica Paediatrica Acta, 21, 230238.","journal-title":"Experimental Cell Research"},{"key":"ref_16","first-page":"241249","article-title":"Familial consitutional panmyelocytopathy, Fanconi's anemia (F. A.). II. A discussion of the cytogenetic findings in Fanconi's anemia","volume":"4","author":"Schmid, W.","year":"1967","unstructured":"Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., and Hungerford, D. A. (1960). Chromosome preparations of leukocytes cultured from human peripheral blood. Experimental Cell Research, 20, 613-616.","journal-title":"Seminars in Hematology"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"496","DOI":"10.7326\/0003-4819-65-3-496","article-title":"Fanconi's anemia. Inherited susceptibility to chromosome breakage in various tissues","volume":"65","author":"Swift, M.R.; Hirschhorn, K.","year":"1966","unstructured":"Schmid, W. (1967). Familial consitutional panmyelocytopathy, Fanconi's anemia (F.A.). II. A discussion of the cytogenetic findings in Fanconi's anemia. Seminars in Hematology, 4, 241249.","journal-title":"Annals of Internal Medicine"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"17","DOI":"10.3109\/10520296209114563","article-title":"Chromosome preparations of bone marrow cells without prior in vitro culture or in vivo colchicine administration","volume":"37","author":"Tjio, J.H.; Whang, J.","year":"1962","unstructured":"Swift, M. R. and Hirschhorn, K. (1966). Fanconi's anemia. Inherited susceptibility to chromosome breakage in various tissues. Annals of Internal Medicine, 65, 496-503.","journal-title":"Stain Technology"},{"key":"ref_19","article-title":"The pregnancy and confinement were normal. Birth weight was 4500 g. Psychomotor development was retarded; he","volume-title":"18 months, and spoke his first words at 4 years of age. At the first examination, in 1961., Down's syndrome was diagnosed. In June 1969, when he was 12 years 8 months, he was 131 cm tall and weighed 30-5 kg. Head circumference was 50-5 cm with a cephalic index equal to 0-94., the eyes and the eyebrows were oblique, epicanthic folds were present., and the nasal bridge was flat. There were fissures on the lips and a furrowed tongue. The occiput was typical. The hands were short and the little finger showed clinodactyly. He was tested with the Billler-Hetzer developmental test, and with the Vineland-Received","year":"1972","unstructured":"Tjio, J. H. and Whang, J. (1962). Chromosome preparations of bone marrow cells without prior in vitro culture or in vivo colchicine administration. Stain Technology, 37, 17-20."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.9.4.474","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:45:02Z","timestamp":1760762702000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.9.4.474"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1972,12]]},"references-count":19,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1972,12,1]]},"published-print":{"date-parts":[[1972,12]]}},"alternative-id":["10.1136\/jmg.9.4.474"],"URL":"https:\/\/doi.org\/10.1136\/jmg.9.4.474","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1972,12]]}}}