{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:40:06Z","timestamp":1760733606980,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,4]]},"abstract":"<jats:p>We report on the expression of fra(10)(q25) in a mother and daughter with familial chronic neutropenia. Differences in expression of the fragile site in bone marrow cells compared with peripheral blood lymphocytes were observed. Short term bone marrow cultures in complete medium showed high levels of spontaneous expression, whereas in 72 hour stimulated blood cultures it was virtually absent. There were also differences in the types of lesions found; chromosome type lesions predominated in the marrow and chromatid type in the blood. Apparent folate sensitivity of the fra(10)(q25) is also discussed.<\/jats:p>","DOI":"10.1136\/jmg.25.4.238","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"238-242","source":"Crossref","is-referenced-by-count":3,"title":["Expression of fra(10)(q25) in peripheral blood and bone marrow in familial neutropenia."],"prefix":"10.1136","volume":"25","author":[{"given":"J A","family":"Holmes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P W","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,4,1]]},"reference":[{"issue":"132","key":"ref_1","first-page":"\"17pl2.\" # \"11()","article-title":"Cytogenetic studies of a BrdU-sensitive but not BrdU-dependent fra(1())(q25) in a patient with multiple anomalies","volume":"34","author":"Ledbetter, D.H.; Bock, H.O.; Caskey, C.T.","year":"1982","unstructured":"Ledbetter DH, Bock HO, Caskey CT. Cytogenetic studies of a BrdU-sensitive but not BrdU-dependent fra(1())(q25) in a patient with multiple anomalies. Ain J Hiumn Geniet 1982:34: 132A. 2 Sutherland GR, Jacky PB, Baker E. Heritable fragile sites on human chromosomes. XI. Factors affecting expression of fragile sites at 10q25, 16q22, 17pl2. An J Humn Gemmet 1984;36:11()-22.","journal-title":"Ain J Hiumn Geniet; Heritable fragile sites on human chromosomes. XI. Factors affecting expression of fragile sites"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1002\/ajmg.1320210405","article-title":"A new family with fra( 10)(q25): spontaneous expression and 100% of expression with 1(X), um BrdU","volume":"21","author":"Gollin, S.M.; Bock, H.G.O.; Caskey, C.T.; Ledbetter, D.H.","year":"1985","unstructured":"Gollin SM, Bock HGO, Caskey CT, Ledbetter DH. A new family with fra(10)(q25): spontaneous expression and 100% of expression with 1(X),um BrdU. Am J Med Geniet 1985;21:643-8.","journal-title":"Am J Med Geniet"},{"issue":"21","key":"ref_3","first-page":"347","article-title":"Enhanced expression of chromosome fragile site lt)q25 in chronic myelogenous leukaemia","volume":"1985","author":"Morgan, R.; Morgan, S.S.; Hecht, F.","unstructured":"Morgan R, Morgan SS, Hecht F. Enhanced expression of chromosome fragile site lt)q25 in chronic myelogenous leukaemia. Am J Med Genet 1985,21:347-5t).","journal-title":"Am J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1136\/jmg.23.3.279","article-title":"A fragile site l(q25 in human sperm chromosomes","volume":"23","author":"Martin, R.H.","year":"1986","unstructured":"Martin RH. A fragile site l(q25 in human sperm chromosomes. J Med Genet 1986;23:279.","journal-title":"J Med Genet"},{"key":"ref_5","first-page":"542","article-title":"Heritable fragile sites on human chromosomes. V. A new class of fragile site requiring BrdU for expression","volume":"32","author":"Sutherland, G.R.; Baker, E.; Seshadri, R.S.","year":"1980","unstructured":"Sutherland GR, Baker E, Seshadri RS. Heritable fragile sites on human chromosomes. V. A new class of fragile site requiring BrdU for expression. Ain J Hum Genet 1980;32:542-8.","journal-title":"Ain J Hum Genet"},{"key":"ref_6","first-page":"628","article-title":"Heritable fragile sites and lymphocyte culture medium containing BrdU","volume":"32","author":"Scheres, J.M.J.C.; Hustinx, T.W.J.","year":"1980","unstructured":"Scheres JMJC, Hustinx TWJ. Heritable fragile sites and lymphocyte culture medium containing BrdU. Am J Humn Geniet 1980;32:628-9.","journal-title":"Am J Humn Geniet"},{"key":"ref_7","first-page":"123","article-title":"Spontaneous expression of the chromosome fragile site fra(l0)(q25)","volume":"35","author":"Taylor, A.M.R.; Bundey, S.","year":"1983","unstructured":"Taylor AMR, Bundey S. Spontaneous expression of the chromosome fragile site fra(l0)(q25). Am J Humn Gentet 1983;35: 123-5.","journal-title":"Am J Humn Gentet"},{"key":"ref_8","first-page":"126","article-title":"Expression of fragile site at l)q25 in normal culture conditions","volume":"35","author":"Petit, P.; Fryns, J.P.","year":"1983","unstructured":"Petit P, Fryns JP. Expression of fragile site at l)q25 in normal culture conditions. Am J Hum Genet 1983;35:126-7.","journal-title":"Am J Hum Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"876","DOI":"10.7326\/0003-4819-61-5-876","article-title":"Familial benign chronic neutropenia","volume":"61","author":"Cutting, H.O.; Lang, J.E.","year":"1964","unstructured":"Cutting HO, Lang JE. Familial benign chronic neutropenia. Ann Intern Med 1964;61:876-87.","journal-title":"Ann Intern Med"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1182\/blood.V41.6.745.745","article-title":"Normal granulocytic colony formation cells in the bone marrow of Ycmemite Jews with genetic neutropenia","volume":"41","author":"Minty, M.; Sachs, L.","year":"1973","unstructured":"Minty M, Sachs L. Normal granulocytic colony formation cells in the bone marrow of Ycmemite Jews with genetic neutropenia. Blood 1973;41:745-52.","journal-title":"Blood"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1001\/archinte.1982.00340170157024","article-title":"The mechanism of benign hereditary neutropenia","volume":"142","author":"Schoenfeld, Y.; Modan, M.; Berliner, S.","year":"1982","unstructured":"Schoenfeld Y, Modan M, Berliner S, et al. The mechanism of benign hereditary neutropenia. Arch Internt Med 1982;142: 797-9.","journal-title":"Arch Internt Med"},{"key":"ref_12","article-title":"Fragile sites on humnan chromosomnes","author":"Sutherland, G.R.; Hecht, F.","year":"1985","unstructured":"Sutherland GR, Hecht F. Fragile sites on humnan chromosomnes. New York: Oxford University Press, 1985."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1136\/jmg.20.3.225","article-title":"Demonstration of the fra(X) in lymphocytes, fibroblasts and bone marrow in a patient with a testicular tumour","volume":"20","author":"del Pozo BC, Millard PR","year":"1983","unstructured":"del Pozo BC, Millard PR. Demonstration of the fra(X) in lymphocytes, fibroblasts and bone marrow in a patient with a testicular tumour. J Med Genet 1983;20:225-7.","journal-title":"J Med Genet"},{"key":"ref_14","first-page":"170","article-title":"Heritable fragile sites on chromosome 16: probable localization of haptoglobin locus in man","volume":"1970","author":"Magenis, R.E.; Hecht, F.; Lovrien, E.W.","unstructured":"Magenis RE, Hecht F, Lovrien EW. Heritable fragile sites on chromosome 16: probable localization of haptoglobin locus in man. Science 1970);170:85-7.","journal-title":"Science"},{"key":"ref_15","first-page":"1","article-title":"Non involvcmcnt of chromosome 16 in karyotype evolution of acute mycloid leukaemia in a patient with a heritable fraigilc site on 16q22","volume":"17","author":"Haas, O.A.; Nacheva, E.; Schwarzmeicr, J.D.","year":"1985","unstructured":"Haas OA, Nacheva E, Schwarzmeicr JD. Non involvcmcnt of chromosome 16 in karyotype evolution of acute mycloid leukaemia in a patient with a heritable fraigilc site on 16q22. 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