{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:16:32Z","timestamp":1792152992819,"version":"4.4.0"},"reference-count":22,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,9]]},"abstract":"<jats:p>We have previously described a fluorescence in situ hybridisation (FISH) assay for the simultaneous analysis of all human subtelomeric regions using a single microscope slide. Here we report the use of this multiprobe FISH assay in the study of a patient whose karyotype was reported by G banding analysis as 46,XX,del(18)(p11.2). Although the proband had some features suggestive of a chromosomal abnormality, relatively few of the specific features of del(18p) were present. She was a 37 year old female with mild distal spinal muscular atrophy (SMA), arthritis of the hands, an abnormal chest shape (pectus excavatum), and an unusual skin condition (keratosis pilaris). Reverse chromosome painting with degenerate oligonucleotide primer-polymerase chain reaction (DOP-PCR) amplified del(18p) chromosomes as a probe confirmed the abnormality as del(18p), with no evidence of any other chromosome involvement. Subsequently, the multiprobe FISH assay confirmed deletion of 18p subtelomeric sequence. However, the assay also showed that sequences corresponding to the 2p subtelomeric probe were present on the tip of the shortened 18p. The patient is therefore monosomic for 18p11.2-pter and trisomic for 2p25-pter, and the revised karyotype is 46,XX,der(18)t(2;18)(p25; p11.2). We believe that a proportion of all cases reported as telomeric deletions may be cryptic translocations involving other chromosome subtelomeric regions. Further studies such as this are necessary to define accurately the clinical characteristics associated with pure monosomy in chromosomal deletion syndromes.<\/jats:p>","DOI":"10.1136\/jmg.35.9.722","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"722-726","source":"Crossref","is-referenced-by-count":52,"title":["Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements."],"prefix":"10.1136","volume":"35","author":[{"given":"S W","family":"Horsley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S J","family":"Knight","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Nixon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Huson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Fitchett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R A","family":"Boone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Hilton-Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Flint","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Kearney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,9,1]]},"reference":[{"key":"ref_1","first-page":"604","article-title":"Del(18)(pter-pl 1 to ql 1) = \"18psyndrome\". In: Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel, A.","year":"1984","unstructured":"Schinzel A. Del(18)(pter-pl 1 to ql 1) = \"18psyndrome\". In: Catalogue of unbalanced chromosome aberrations in man. Berlin: Walter de Gruyter, 1984:604-7."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1136\/jmg.28.8.530","article-title":"Single maxillary central incisor in a girl with del(l8p) syndrome","volume":"28","author":"Aughton, D.J.; AlSaadi, A.A.; Transue, D.J.","year":"1991","unstructured":"Aughton DJ, AlSaadi AA, Transue DJ. Single maxillary central incisor in a girl with del(l8p) syndrome. J7 Med Genet 1991;28:530-2.","journal-title":"J7 Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1111\/j.1399-0004.1994.tb04411.x","article-title":"Single mandibular incisor in a patient with del(l8p) anomaly","volume":"46","author":"Pfeiffer, R.A.; Hertrick, K.; Cohen, M.","year":"1994","unstructured":"Pfeiffer RA, Hertrick K, Cohen M. Single mandibular incisor in a patient with del(l8p) anomaly. Clin Genet 1994;46: 430-2.","journal-title":"Clin Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1111\/j.1399-0004.1993.tb03827.x","article-title":"Schempp W A retrospective CISS hybridization analysis of a case with de novo translocation t(18; 22) resulting in an 18psyndrome","volume":"43","author":"Voiculescu, I.; Toder, R.; Back, E.; Osswald, P.","year":"1993","unstructured":"Voiculescu I, Toder R, Back E, Osswald P, Schempp W A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18psyndrome. Clin Genet 1993;43:318-20.","journal-title":"Clin Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1002\/ajmg.1320570416","article-title":"Gonadal dysgenesis in del(18p) syndrome","volume":"57","author":"Telvi, L.; Bernheim, A.; Ion, A.; Fouquet, F.; Le Bocu, Y.; Chaussian, J.L.","year":"1995","unstructured":"Telvi L, Bernheim A, Ion A, Fouquet F, Le Bocu Y, Chaussian JL. Gonadal dysgenesis in del(18p) syndrome. Am _7 Med Genet 1995;57:598-600.","journal-title":"Am _7 Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1111\/j.1399-0004.1996.tb04322.x","article-title":"The phenotype of a 45, X male with a Y\/18 translocation","volume":"49","author":"Gimelli, G.; Cinti, R.; Varone, P.; Naselli, A.; Di Battista, E.; Pezzolo, A.","year":"1996","unstructured":"Gimelli G, Cinti R, Varone P, Naselli A, Di Battista E, Pezzolo A. The phenotype of a 45,X male with a Y\/18 translocation. Clin Genet 1996;49:37-41.","journal-title":"Clin Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1111\/j.1399-0004.1995.tb04306.x","article-title":"18p monosomy with GH-deficiency and empty sella: good response to GHtreatment","volume":"47","author":"Schober, E.; Scheibenreiter, S.; Frisch, H.","year":"1995","unstructured":"Schober E, Scheibenreiter S, Frisch H. 18p monosomy with GH-deficiency and empty sella: good response to GHtreatment. Clin Genet 1995;47:254-6.","journal-title":"Clin Genet"},{"key":"ref_8","first-page":"1080","article-title":"Physical mapping of the holoprosencephaly critical region in 18pl 1.3","volume":"57","author":"Overhauser, J.; Mitchell, H.F.; Zackai, E.H.; Tick, D.B.; Rojas, K.; Muenke, M.","year":"1995","unstructured":"Overhauser J, Mitchell HF, Zackai EH, Tick DB, Rojas K, Muenke M. Physical mapping of the holoprosencephaly critical region in 18pl 1.3. Am3rHum Genet 1995;57:1080-5."},{"key":"ref_9","first-page":"86","article-title":"Molecular Medicine Collaboration. A complete set of human telomeric probes and their clinical application","volume":"13","author":"National Institutes of Health and Institute of","year":"1996","unstructured":"National Institutes of Health and Institute of Molecular Medicine Collaboration. A complete set of human telomeric probes and their clinical application. Nat Genet 1996;13:86-9.","journal-title":"Nat Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000484724","article-title":"Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres","volume":"5","author":"Knight, S.J.L.; Horsley, S.W.; Regan, R.","year":"1997","unstructured":"Knight SJL, Horsley SW, Regan R, et al. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet 1997;5: 1-8.","journal-title":"Eur J Hum Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/S0140-6736(95)90732-7","article-title":"PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy","volume":"345","author":"der Steege G, Van; PM, Grootschotten; van der Vlies P","year":"1995","unstructured":"Van der Steege G, Grootschotten PM, van der Vlies P, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345: 985-6.","journal-title":"Lancet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre, S.; L, Burglen; Reboullet, S.","year":"1995","unstructured":"Lefebvre S, Bu.rglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65.","journal-title":"Cell"},{"key":"ref_13","first-page":"91","article-title":"Chromosome staining and banding techniques","volume-title":"cytogenetics: a practical approach","author":"Benn, P.A.; Perle, M.A.","year":"1992","unstructured":"Benn PA, Perle MA. Chromosome staining and banding techniques. In: Rooney DE, Czepulkowski BH, eds. Human cytogenetics: a practical approach. Oxford: IRL Press, 1992:91-118."},{"key":"ref_14","first-page":"987","article-title":"Characterisation of three de novo derivative chromosomes 16 by 'reverse chromosome painting'","volume":"52","author":"Rack, K.A.; Harris, P.C.; MacCarthy, A.M.","year":"1993","unstructured":"Rack KA, Harris PC, MacCarthy AM, et al. Characterisation of three de novo derivative chromosomes 16 by 'reverse chromosome painting' and molecular analysis. Am J Hum Genet 1993;52:987-97.","journal-title":"and molecular analysis. Am J Hum Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1093\/oso\/9780199633098.003.0004","article-title":"Fluorescent in situ hybridization","volume-title":"genetic disease analysis","author":"Buckle, V.J.; Rack, K.","year":"1993","unstructured":"Buckle VJ, Rack K. Fluorescent in situ hybridization. In: Davies KE, ed. Human genetic disease analysis. Oxford: IRL Press, 1993:59-80."},{"key":"ref_16","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. J Med Genet 1992;29:299-307.","journal-title":"J Med Genet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/ajmg.1320550216","article-title":"Trisomy 2p: analysis of unusual phenotypic findings","volume":"55","author":"Lurie, I.W.; Ilyina, H.G.; Gurevich, D.B.","year":"1995","unstructured":"Lurie IW, Ilyina HG, Gurevich DB, et al. Trisomy 2p: analysis of unusual phenotypic findings. Am J Med Genet 1995; 55:229-36.","journal-title":"Am J Med Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/BF00284586","article-title":"Duplication of 2p25: confirmation of the assignment of soluble acid phosphate (ACP) locus to 2p25","volume":"71","author":"Wakita, Y.; Narahara, K.; Takahashi, Y.","year":"1985","unstructured":"Wakita Y, Narahara K, Takahashi Y, et al. Duplication of 2p25: confirmation of the assignment of soluble acid phosphate (ACP) locus to 2p25. Hum Genet 1985;71:259-60.","journal-title":"Hum Genet"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/ajmg.1320210204","article-title":"Partial deletion of distal 17q","volume":"21","author":"Bridge, J.; Sanger, W.; Mosher, G.","year":"1985","unstructured":"Bridge J, Sanger W, Mosher G, et al. Partial deletion of distal 17q. AmJ Med Genet 1985;21:225-9.","journal-title":"AmJ Med Genet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1847","DOI":"10.1093\/hmg\/3.10.1847","article-title":"Sequence organization ofthe human 2q telomere","volume":"3","author":"Macina, R.A.; Negorev, D.G.; Spais, C.; Ruthig, L.A.; Hu, X.L.; Riethman, H.C.","year":"1994","unstructured":"Macina RA, Negorev DG, Spais C, Ruthig LA, Hu XL, Riethman HC. Sequence organization ofthe human 2q telomere. Hum Mol Genet 1994;3:1847-53.","journal-title":"Hum Mol Genet"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1126\/science.273.5274.494","article-title":"Multicolor spectral karyotyping of human chromosomes","volume":"273","author":"Schrock, E.; du Manoir, S.; Veldman, T.","year":"1996","unstructured":"Schrock E, du Manoir S, Veldman T, et al. Multicolor spectral karyotyping of human chromosomes. Science 1996;273: 494-7.","journal-title":"Science"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/ng0496-368","article-title":"Karyotyping human chromosomes by combinatorial multi-fluor FISH","volume":"12","author":"Speicher, M.R.; Ballard, S.G.; Ward, D.C.","year":"1996","unstructured":"Speicher MR, Ballard SG, Ward DC. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 1996;12:368-75.","journal-title":"Nat Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.9.722","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:25:51Z","timestamp":1760729151000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.9.722"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,9]]},"references-count":22,"journal-issue":{"issue":"9","published-online":{"date-parts":[[1998,9,1]]},"published-print":{"date-parts":[[1998,9]]}},"alternative-id":["10.1136\/jmg.35.9.722"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.9.722","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,9]]}}}