{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:16:52Z","timestamp":1760833012883,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,12]]},"abstract":"<jats:p>Prometaphase chromosomes from a 16 year old boy with hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome) showed a tiny chromosome fragment attached to the long arm of one chromosome 1 without a visible reciprocal translocation chromosome. Chromosome painting with libraries from chromosomes 1 and X excluded a t(X;1) translocation, but failed to detect a second translocation chromosome. Through reverse chromosome painting, an unbalanced der(1), t(1;10) (q44;q26) translocation could be detected. This is the third case of Kallmann syndrome with a de novo rearrangement between two autosomes. The distal long arm of chromosome 1 may contain a candidate locus for a gene, mutations of which may cause the Kallmann phenotype; a 10q location seems less likely.<\/jats:p>","DOI":"10.1136\/jmg.32.12.957","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"957-961","source":"Crossref","is-referenced-by-count":13,"title":["Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting."],"prefix":"10.1136","volume":"32","author":[{"given":"A","family":"Schinzel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Lorda-Sanchez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Binkert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N P","family":"Carter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C E","family":"Bebb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Ferguson-Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U","family":"Eiholzer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Zachmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W P","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,12,1]]},"reference":[{"key":"ref_1","article-title":"Report of the Committee for Clinical Disorders and Chromosome Aberrations","volume-title":"A compendiunm","author":"Schinzel, A.; McKusick, V.A.; Francomano, C.","year":"1994","unstructured":"Schinzel A, McKusick VA, Francomano C. Report of the Committee for Clinical Disorders and Chromosome Aberrations. In: Cuticchia AJ, Pearson PL, eds. Hunman gene mapping 1994. A compendiunm. Baltimore: Johns Hopkins University Press, 1995."},{"key":"ref_2","first-page":"432","article-title":"Tables for predicting adult height from skeletal age","volume":"14","author":"Bayley, N.; Pinneau, S.","year":"1952","unstructured":"Bayley N, Pinneau S. Tables for predicting adult height from skeletal age. _7 Pediatr 1952;14:432-5."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1002\/cyto.990110123","article-title":"Study of X chromosome abnormality in XX males using bivariate flow karyotype analysis and flow sorted dot blots","volume":"11","author":"Carter, N.P.; Ferguson-Smith, M.E.; Affara, N.A.; Briggs, H.; Ferguson-Smith, M.A.","year":"1990","unstructured":"Carter NP, Ferguson-Smith ME, Affara NA, Briggs H, Ferguson-Smith MA. Study of X chromosome abnormality in XX males using bivariate flow karyotype analysis and flow sorted dot blots. Cytometry 1990;11:202-7.","journal-title":"Cytometry"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1136\/jmg.29.5.299","article-title":"Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics","volume":"29","author":"Carter, N.P.; Ferguson-Smith, M.A.; Perryman, M.T.","year":"1992","unstructured":"Carter NP, Ferguson-Smith MA, Perryman MT, et al. Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. 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Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion. Am _Med Genet 1989;33:100-7.","journal-title":"Am _Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1093\/hmg\/2.4.373","article-title":"Heterogeneity in the mutations responsible for X-chromosomelinked Kallmann syndrome","volume":"2","author":"Hardelin, J.P.; Levilliers, J.; Blanchsard","year":"1993","unstructured":"Hardelin JP, Levilliers J, Blanchsard, et al. Heterogeneity in the mutations responsible for X-chromosomelinked Kallmann syndrome. Hum Mol Genet 1993;2:373-7.","journal-title":"Hum Mol Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/ajmg.1320350303","article-title":"Chromosome abnormality in Kallmann syndrome","volume":"35","author":"Best, L.G.; Wasdahl, W.A.; Larson, L.M.; Sturlaugson, J.","year":"1990","unstructured":"Best LG, Wasdahl WA, Larson LM, Sturlaugson J. 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