{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:47:59Z","timestamp":1760906879264},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7003,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recently it has been shown that most cases of the Miller\u2010Dieker syndrome (MDS) are caused by deletion 17p13.3. All familial cases have been associated with a balanced reciprocal translocation in a carrier parent and unbalanced translocations in their affected offspring. We report a new case of familial MDS in whom the mother carries a pericentric inversion of chromosome 17. She has had two children with MDS, one of whom was shown to carry a recombinant 17 consisting of dup(17q) and del(17p). The high frequency of familial MDS and its consistent association with balanced chromosomal rearrangements in one of the parents makes it important to do high\u2010resolution chromosome analysis on all patients with MDS and possibly all patients with lissencephaly. Finding a familial balanced rearrangement makes prenatal diagnosis of this condition feasible.<\/jats:p>","DOI":"10.1002\/ajmg.1320230402","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:03:36Z","timestamp":1118520216000},"page":"853-859","source":"Crossref","is-referenced-by-count":30,"title":["Familial Miller\u2010Dieker syndrome associated with pericentric inversion of chromosome 17"],"prefix":"10.1002","volume":"23","author":[{"given":"Frank","family":"Greenberg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert F.","family":"Stratton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lillian H.","family":"Lockhart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frederick F. B.","family":"Elder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William B.","family":"Dobyns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.","family":"Ledbetter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","unstructured":"BaumannW ZabelB GehlerJ(1982):Klinisches Bild bei partieller Trisomie 17q. In:Tolksdorf M SprangerJ(eds): \u201cKlinische Genetik in der Padiatrie. 3. Symposium in Kiel.\u201d Friedrichsdorf. pp315\u2013321."},{"key":"e_1_2_1_3_1","volume-title":"Duplication (partial trisomy) of the distal long arm of chromosome 17: A new recognizable chromosome disorder","author":"Berberich MS","year":"1978"},{"issue":"6","key":"e_1_2_1_3_2","first-page":"287","author":"The National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.16.2_Part_1.179"},{"key":"e_1_2_1_5_1","first-page":"286","volume-title":"Clinical Atlas of Human Chromosomes","author":"deGrouchy J","year":"1984"},{"key":"e_1_2_1_6_1","first-page":"53","volume-title":"The lissencephaly syndrome","author":"Dieker H","year":"1969"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180320"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80183-8"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200312"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320080113"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130780"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.13.10.841"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170313"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273000"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00849.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1257746"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320230402","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320230402","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T10:47:36Z","timestamp":1697885256000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320230402"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,4]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1986,4]]}},"alternative-id":["10.1002\/ajmg.1320230402"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320230402","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,4]]}}}