{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:25:04Z","timestamp":1760783104748,"version":"build-2065373602"},"reference-count":27,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,3]]},"abstract":"<jats:p>We present three cousins who have normal karyotypes, despite having clinical features of Wolf-Hirschhorn syndrome. Fluorescence in situ hybridisation techniques confirmed that all three relatives were monosomic for the distal short arm of chromosome 4 and that a cryptic translocation involving chromosomes 4 and 11 was segregating within the family. Segregation analysis indicated that the risk of an affected child being born to a parent carrying the translocation was 15%. Molecular analysis showed that loci D4S111 and D4S115 were not deleted in the proband, thus excluding these loci from the \"Wolf-Hirschhorn critical region\". Surprisingly, DNA studies also suggested that the translocation breakpoint on chromosome 4 was within the region of a preexisting paracentric inversion.<\/jats:p>","DOI":"10.1136\/jmg.33.3.197","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"197-202","source":"Crossref","is-referenced-by-count":28,"title":["Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study."],"prefix":"10.1136","volume":"33","author":[{"given":"E","family":"Reid","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Morrison","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Barron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Boyd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Cooke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Fielding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J L","family":"Tolmie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,3,1]]},"reference":[{"key":"ref_1","first-page":"397","article-title":"Defizienz an den kurzen Armen eines Chromosoms nr 4","volume-title":"Humanigenetik","volume":"1","author":"Wolf, U.; Reinwein, H.; Porsch, R.","year":"1965","unstructured":"Wolf U, Reinwein H, Porsch R, et al. Defizienz an den kurzen Armen eines Chromosoms nr 4. Humanigenetik 1965;1:397-413."},{"key":"ref_2","first-page":"224","article-title":"Clinical and cytogenetic studies in a large","volume":"27","author":"Tranebjaerg, L.; Peterson, A.; Hove, K.","year":"1984","unstructured":"Tranebjaerg L, Peterson A, Hove K, et al. Clinical and cytogenetic studies in a large (4:8) translocation family with preand postnatal Wolf syndrome. Ann Genet (Paris) 1984;27:224-9.","journal-title":"Ann Genet (Paris); translocation family with preand postnatal Wolf syndrome"},{"key":"ref_3","first-page":"451","article-title":"A submicroscopic translocation t(4; O), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation","volume":"29","author":"Goodship, J.; Curtis, A.; Cross, I.","year":"1992","unstructured":"Goodship J, Curtis A, Cross I, et al. A submicroscopic translocation t(4;O), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. i Med Genet 1992;29:451-4.","journal-title":"i Med Genet"},{"key":"ref_4","first-page":"80","article-title":"Detection of cryptic translocation 4p and lip common to 2 unrelated families using fluorescent in situ hybridisation (FISH) techniques","volume":"51","author":"Hagg, M.M.; Lunt, B.; Berry, R.","year":"1992","unstructured":"Hagg MM, Lunt B, Berry R, et al. Detection of cryptic translocation 4p and lip common to 2 unrelated families using fluorescent in situ hybridisation (FISH) techniques. Anm Hum Genet 1992;51:A80.","journal-title":"Anm Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/ajmg.1320520114","article-title":"FISH detection of Wolf-Hirschhorn syndrome: exclusion of D4F26 as critical site","volume":"52","author":"Johnson, V.P.; Alther, M.R.; Blake, J.M.","year":"1994","unstructured":"Johnson VP, Alther MR, Blake JM, et al. FISH detection of Wolf-Hirschhorn syndrome: exclusion of D4F26 as critical site. Anm 7 Med Genet 1994;52:70-4.","journal-title":"Anm 7 Med Genet"},{"key":"ref_6","first-page":"1235","article-title":"Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Anm Hum Genet","volume":"49","author":"Alther, M.R.; Bengtsson, U.; Elder, F.F.B.","year":"1991","unstructured":"Alther MR, Bengtsson U, Elder FFB, et al. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Anm Hum Genet 1991; 49:1235-42."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1542\/peds.93.5.826","article-title":"A practical application of fluorescent in situ hybridisation to the Wolf-Hirschhom syndrome","volume":"93","author":"Fagan, K.; Colley, P.; Partington, M.","year":"1994","unstructured":"Fagan K, Colley P, Partington M. A practical application of fluorescent in situ hybridisation to the Wolf-Hirschhom syndrome. Pediatrics 1994;93:826-7.","journal-title":"Pediatrics"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/0888-7543(87)90101-7","article-title":"A somatic cell hybrid panel for localising DNA segments near the Huntington's disease gene","volume":"1","author":"MacDonald, M.E.; Anderson, M.A.; Gilliam, T.C.","year":"1987","unstructured":"MacDonald ME, Anderson MA, Gilliam TC, et al. A somatic cell hybrid panel for localising DNA segments near the Huntington's disease gene. Geniomics 1987;1:29-34.","journal-title":"Geniomics"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"7655","DOI":"10.1093\/nar\/15.18.7655","article-title":"Bam HI RFLP at the insulin growth factor II (IGF2) locus on chromosome 11","volume":"15","author":"Xiang, K.; Karam, J.H.; Bell, G.I.","year":"1987","unstructured":"Xiang K, Karam JH, Bell GI. Bam HI RFLP at the insulin growth factor II (IGF2) locus on chromosome 11. Nucleic Acids Res 1987;15:7655.","journal-title":"Nucleic Acids Res"},{"key":"ref_10","first-page":"4761","article-title":"Novel nonisotopic in situ hybridisation technique detects small","volume":"15","author":"Garson, J.A.; Van den Berghe, J.A.; Kemshead, J.T.","year":"1987","unstructured":"Garson JA, Van den Berghe JA, Kemshead JT. Novel nonisotopic in situ hybridisation technique detects small (1 kb) unique sequences in routinely G-banded human chromosomes: fine mapping of N-myc and beta-NGF genes. NA'cleic Acids Res 1987;15:4761-70.","journal-title":"NA'cleic Acids Res; kb) unique sequences in routinely G-banded human chromosomes: fine mapping of N-myc and beta-NGF genes"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"2934","DOI":"10.1073\/pnas.83.9.2934","article-title":"Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridisation","volume":"83","author":"Pinkel, D.; Straume, T.; Gray, J.W.","year":"1986","unstructured":"Pinkel D, Straume T, Gray JW. Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridisation. Proc Natl Acad Sci USA 1986;83:2934-8.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1136\/jmg.29.5.299","article-title":"Reverse chromosome painting: a method for 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 rapid analysis of aberrant chromosomes in clinical cytogenetics. if Med Genet 1992;29:299-307.","journal-title":"if Med Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/0890-8508(92)90048-3","article-title":"Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4","volume":"6","author":"Allitto, B.A.; Al, McClatchey; Barnes, G.","year":"1992","unstructured":"Allitto BA, McClatchey Al, Barnes G, et al. Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4. Mol Cell Probes 1992;6:513-20.","journal-title":"Mol Cell Probes"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1093\/hmg\/3.5.787","article-title":"Localization of the achondroplasia gene to the distal 2 5 Mb of human chromosome 4p","volume":"3","author":"Francomano, C.A.; Ortiz de Luna, R.I.; Hefferon, T.W.","year":"1994","unstructured":"Francomano CA, Ortiz de Luna RI, Hefferon TW, et al. Localization of the achondroplasia gene to the distal 2 5 Mb of human chromosome 4p. Hum Mol Genet 1994; 3:787-92.","journal-title":"Hum Mol Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1006\/mcpr.1993.1034","article-title":"A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes","volume":"7","author":"Warner, J.P.; Barron, L.H.; Brock, D.J.H.","year":"1993","unstructured":"Warner JP, Barron LH, Brock DJH. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 1993;7:235-9.","journal-title":"Mol Cell Probes"},{"key":"ref_16","first-page":"22","article-title":"Chronmosonme abnormalities and genetic counselling","author":"Gardner, R.J.M.; Sutherland, G.R.","year":"1989","unstructured":"Gardner RJM, Sutherland GR. Chronmosonme abnormalities and genetic counselling. Oxford: Oxford University Press, 1989:22-5."},{"key":"ref_17","first-page":"571","article-title":"Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome","volume":"51","author":"Gandelman, K.Y.; Ginson, L.; Meyn, M.S.","year":"1992","unstructured":"Gandelman KY, Ginson L, Meyn MS, et al. Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. Anm 7 Hunm Genet 1992;51: 571-8.","journal-title":"Anm 7 Hunm Genet"},{"key":"ref_18","first-page":"449","article-title":"Molecular detection of a 4p deletion using PCR based polymorphisms: a technique for the rapid detection of the Wolf Hirschhorn syndrome. Anm Hum Genet 1992,44","author":"Alther, M.R.; Gusella, J.F.; Wasmuth, J.J.","unstructured":"Alther MR, Gusella JF, Wasmuth JJ, et al. Molecular detection of a 4p deletion using PCR based polymorphisms: a technique for the rapid detection of the Wolf Hirschhorn syndrome. Anm Hum Genet 1992,44:449-54."},{"issue":"9","key":"ref_19","first-page":"132","article-title":"The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation","volume":"1995","author":"Flint, J.; Wilkie, A.O.M.; Buckle, V.J.","unstructured":"Flint J, Wilkie AOM, Buckle VJ, et al. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nature Getnet 1995,9:132-9.","journal-title":"Nature Getnet"},{"key":"ref_20","first-page":"819","article-title":"Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease","volume":"ii:","author":"Lamb, J.; Harris, P.C.; Lindenbaum, R.H.","year":"1989","unstructured":"Lamb J, Harris PC, Lindenbaum RH, et al. Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease. Lancet 1989;ii:819-23.","journal-title":"Lancet"},{"key":"ref_21","first-page":"629","article-title":"De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier","volume":"53","author":"Bonthron, D.T.; Smith, S.J.L.; Fantes, J.","year":"1993","unstructured":"Bonthron DT, Smith SJL, Fantes J, et al. De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier. Am _. Hunm Genet 1993;53: 629-37.","journal-title":"Am _. Hunm Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1111\/j.1399-0004.1994.tb03983.x","article-title":"Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridisation (FISH)","volume":"45","author":"Pettenati, M.J.; Hayworth, R.; Cox, K.","year":"1994","unstructured":"Pettenati MJ, Hayworth R, Cox K, et al. Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridisation (FISH). Clin Genet 1994; 45:17-20.","journal-title":"Clin Genet"},{"key":"ref_23","first-page":"255","article-title":"Molecular analysis of a complex chromosomal rearrangement and a review of familial cases","volume":"53","author":"Batista, D.A.S.; Pai, G.S.; Stetten, G.","year":"1994","unstructured":"Batista DAS, Pai GS, Stetten G. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Ani i7 Med Genet 1994;53:255-63.","journal-title":"Ani i7 Med Genet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1136\/jmg.31.2.103","article-title":"Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhom syndrome","volume":"31","author":"Estabrooks, L.L.; Lamb, A.N.; Aylesworth, A.S.","year":"1994","unstructured":"Estabrooks LL, Lamb AN, Aylesworth AS, et al. Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhom syndrome. i Med Genet 1994;31: 103-7.","journal-title":"i Med Genet"},{"key":"ref_25","first-page":"434","article-title":"Catalogue of unbalanced chromosonme aberration1s in man","author":"Schinzel, A.","year":"1984","unstructured":"Schinzel A. Catalogue of unbalanced chromosonme aberration1s in man. Berlin: de Gruyter, 1984:434-7."},{"key":"ref_26","first-page":"581","article-title":"Preliminary phenotypic map at chromosome 4p 16 based on 4p deletions","volume":"57","author":"Estabrooks, L.L.; Rao, K.W.; Driscoll, D.A.","year":"1995","unstructured":"Estabrooks LL, Rao KW, Driscoll DA, et al. Preliminary phenotypic map at chromosome 4p 16 based on 4p deletions. Ani _Med Genet 1995;57:581-6.","journal-title":"Ani _Med Genet"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1093\/hmg\/2.10.1571","article-title":"A zinc finger gene ZNF141 mapping at 4p16.3\/D4S90 is a candidate for the Wolf-Hirschhorn (4p-) syndrome","volume":"2","author":"Tommerup, N.; Aagaard, L.; Lund, C.L.","year":"1993","unstructured":"Tommerup N, Aagaard L, Lund CL, et al. A zinc finger gene ZNF141 mapping at 4p16.3\/D4S90 is a candidate for the Wolf-Hirschhorn (4p-) syndrome. 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