{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:48:54Z","timestamp":1760906934344,"version":"build-2065373602"},"reference-count":29,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,1]]},"abstract":"<jats:p>We report a case of Miller-Dieker syndrome (MDS) owing to an unbalanced rearrangement of a familial pericentric inversion of chromosome 17 (inv(17) (p13.3q25.1)). In addition to lissencephaly and the facial features of MDS, the affected child had other congenital malformations consistent with distal 17q duplication. Initial cytogenetic analysis failed to show any abnormality and fluorescence in situ hybridisation (FISH) studies confirmed the 17p deletion in the proband and identified the chromosome 17 inversion in his mother. FISH studies were performed in other relatives and enabled first trimester prenatal diagnosis by chorionic villus sampling in a subsequent pregnancy of the proband's mother. These findings underline the value of FISH in the investigation of MDS families.<\/jats:p>","DOI":"10.1136\/jmg.33.1.69","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"69-72","source":"Crossref","is-referenced-by-count":11,"title":["Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation."],"prefix":"10.1136","volume":"33","author":[{"given":"H M","family":"Kingston","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D H","family":"Ledbetter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P I","family":"Tomlin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K L","family":"Gaunt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/S0733-8619(18)30830-2","article-title":"The neurogenetics of lissencephaly","volume":"7","author":"Dobyns, W.B.","year":"1989","unstructured":"Dobyns WB. The neurogenetics of lissencephaly. Neurol Clin 1989;7:89-105.","journal-title":"Neurol Clin"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1212\/WNL.13.10.841","article-title":"Lissencephaly in two siblings","volume":"13","author":"Miller, J.Q.","year":"1963","unstructured":"Miller JQ. Lissencephaly in two siblings. Neurology 1963; 13:841-50.","journal-title":"Neurology"},{"issue":"2","key":"ref_3","first-page":"53","article-title":"The lissencephaly syndrome","volume":"1969","author":"Dieker, H.; Edwards, R.H.; Zurhein, G.; Chou, S.M.; Hartman, H.A.; Opitz, J.M.","unstructured":"Dieker H, Edwards RH, Zurhein G, Chou SM, Hartman HA, Opitz JM. The lissencephaly syndrome. Birth Defects 1969;2:53-64.","journal-title":"Birth Defects"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1542\/peds.66.2.277","article-title":"The MillerDieker syndrome","volume":"66","author":"Jones, K.L.; Gilbert, E.F.; Kaveggia, E.G.; Opitz, J.M.","year":"1980","unstructured":"Jones KL, Gilbert EF, Kaveggia EG, Opitz JM. The MillerDieker syndrome. Pediatrics 1980;66:277-81.","journal-title":"Pediatrics"},{"key":"ref_5","first-page":"584","article-title":"Clinical and molecular diagnosis of Miller-Dieker syndrome. Am.7 Hum Genet","volume":"48","author":"Dobyns, W.B.; Curry, C.J.R.; Hoyme, H.E.; Turlington, L.; Ledbetter, D.H.","year":"1991","unstructured":"Dobyns WB, Curry CJR, Hoyme HE, Turlington L, Ledbetter DH. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am.7 Hum Genet 1991;48: 584-94."},{"key":"ref_6","first-page":"597","article-title":"Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. Am.7 Humn Genet","volume":"43","author":"Schwartz, C.E.; Johnson, J.P.; Holycross, B.","year":"1988","unstructured":"Schwartz CE, Johnson JP, Holycross B, et al. Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. Am.7 Humn Genet 1988;43: 597-604."},{"key":"ref_7","first-page":"587","article-title":"Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome","volume":"43","author":"vanTuinen P; WB, Dobyns; DC, Rich","year":"1988","unstructured":"vanTuinen P, Dobyns WB, Rich DC, et al. Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Ani 7 Hum Genet 1988;43:587-96.","journal-title":"Ani 7 Hum Genet"},{"key":"ref_8","first-page":"5136","article-title":"Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated \"island\"","volume-title":"the MillerDieker chromosome region. Proc NatlAcad Sci USA","volume":"86","author":"Ledbetter, D.H.; Ledbetter, S.A.; vanTuinen P","year":"1989","unstructured":"Ledbetter DH, Ledbetter SA, vanTuinen P, et al. Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated \"island\" in the MillerDieker chromosome region. Proc NatlAcad Sci USA 1989; 86:5136-40."},{"key":"ref_9","first-page":"707","article-title":"Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization","volume":"49","author":"Kuwano, A.; Ledbetter, S.A.; Dobyns, W.B.; Emanuel, B.S.; Ledbetter, D.H.","year":"1991","unstructured":"Kuwano A, Ledbetter SA, Dobyns WB, Emanuel BS, Ledbetter DH. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am _7 Humn Genet 1991;49:707-14.","journal-title":"Am _7 Humn Genet"},{"key":"ref_10","first-page":"182","article-title":"Microdeletions of chromosome 17pl3 as a cause of isolated lissencephaly","volume":"50","author":"Ledbetter, S.A.; Kuwano, A.; Dobyns, W.B.; Ledbetter, D.H.","year":"1992","unstructured":"Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH. Microdeletions of chromosome 17pl3 as a cause of isolated lissencephaly. Am _7 Hum Genet 1992;50:182-9.","journal-title":"Am _7 Hum Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/364717a0","article-title":"Isolation of a MillerDieker lissencephaly gene containing G protein, B-subunitlike repeats","volume":"364","author":"Reiner 0, Carrozzo R, Shen Y","year":"1993","unstructured":"Reiner 0, Carrozzo R, Shen Y, et al. Isolation of a MillerDieker lissencephaly gene containing G protein,B-subunitlike repeats. Nature 1993;364:717-21.","journal-title":"Nature"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2838","DOI":"10.1001\/jama.1993.03510230076039","article-title":"A human brain malformation associated with deletion of the LIS I gene located at chromosome 17p 13","volume":"270","year":"1993","unstructured":"Dobyns WB, Reiner 0, Carrozzo R, Ledbetter DH. Lissencephaly. A human brain malformation associated with deletion of the LIS I gene located at chromosome 17p 13. JAMA 1993;270:2838-42.","journal-title":"JAMA"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/370216a0","article-title":"Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor","volume":"370","author":"Hattori, M.; Adachi, H.; Tsujimoto, M.; Arai, H.; Inoue, K.","year":"1994","unstructured":"Hattori M, Adachi H, Tsujimoto M, Arai H, Inoue K. Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor. Nature 1994;370:216-8.","journal-title":"Nature"},{"key":"ref_14","first-page":"193","article-title":"New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17pl3","volume":"67","author":"Stratton, R.F.; Dobyns, W.B.; Airhart, S.D.; Ledbetter, D.H.","year":"1984","unstructured":"Stratton RF, Dobyns WB, Airhart SD, Ledbetter DH. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17pl3. Hunm Genet 1984;67:193-200.","journal-title":"Hunm Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1111\/j.1469-8749.1987.tb02132.x","article-title":"Lissencephaly (agyria-pachygyria): clinical findings and serial EEG studies","volume":"29","author":"Gastaut, H.; Pinsard, N.; Raybaud, C.; Aicardi, J.; Zifkin, B.","year":"1987","unstructured":"Gastaut H, Pinsard N, Raybaud C, Aicardi J, Zifkin B. Lissencephaly (agyria-pachygyria): clinical findings and serial EEG studies. Dev Med Child Neurol 1987;29: 167-80.","journal-title":"Dev Med Child Neurol"},{"key":"ref_16","first-page":"552","article-title":"Miller-Dieker syndrome: lissencephaly and monosomy 17p","volume":"102","author":"Dobyns, W.B.; Stratton, R.F.; Parke, J.T.; Greenberg, F.; Nussbaum, R.L.; Ledbetter, D.H.","year":"1983","unstructured":"Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH. 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Amn 7Med Genet 1985;22:229-35."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1212\/WNL.16.2_Part_1.179","article-title":"Lissencephaly: two cases","volume":"16","author":"Daube, JR, Chou; S.M.","year":"1966","unstructured":"Daube JR, Chou SM. Lissencephaly: two cases. Neuirology 1966;16: 179-91.","journal-title":"Neuirology"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1136\/jmg.26.9.577","article-title":"Duplication of distal 17q from a maternal translocation: an additional case with some unique features","volume":"26","author":"Caine, A.; Knapton, D.M.; Mueller, R.F.; Congdon, P.J.; Haigh, D.","year":"1989","unstructured":"Caine A, Knapton DM, Mueller RF, Congdon PJ, Haigh D. Duplication of distal 17q from a maternal translocation: an additional case with some unique features. 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Familial half cryptic translocation t(9;17). 7 Med Genet 1994;31:712-4.","journal-title":"Genet"},{"key":"ref_29","first-page":"147","article-title":"Fluorescent in situ hybridisation detection of a balanced t(9; 17) translocation in the father of a child with lissencephaly and additional abnormalities","volume":"7","author":"Brecevic, L.; Binkert, F.; Boltshauser, E.; Schinzel, A.","year":"1994","unstructured":"Brecevic L, Binkert F, Boltshauser E, Schinzel A. Fluorescent in situ hybridisation detection of a balanced t(9; 17) translocation in the father of a child with lissencephaly and additional abnormalities. Dev Brain Dysfunct 1994;7: 147-54.","journal-title":"Dev Brain Dysfunct"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.1.69","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:41:26Z","timestamp":1760773286000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.1.69"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,1]]},"references-count":29,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1996,1,1]]},"published-print":{"date-parts":[[1996,1]]}},"alternative-id":["10.1136\/jmg.33.1.69"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.1.69","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1996,1]]}}}