{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T05:37:57Z","timestamp":1783057077952,"version":"3.54.6"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,8,20]],"date-time":"2018-08-20T00:00:00Z","timestamp":1534723200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1186\/s12920-018-0384-4","type":"journal-article","created":{"date-parts":[[2018,8,20]],"date-time":"2018-08-20T08:35:29Z","timestamp":1534754129000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)"],"prefix":"10.1186","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9434-9697","authenticated-orcid":false,"given":"Magdalena","family":"Pasi\u0144ska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewelina","family":"\u0141azarczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Ju\u0142ga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Bartnik-G\u0142aska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata","family":"Nowakowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Haus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,8,20]]},"reference":[{"key":"384_CR1","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1093\/humrep\/deu314","volume":"30","author":"G De Krom","year":"2015","unstructured":"De Krom G, Arens YH, Coonen E, Van Ravenswaaij-Arts CM, Meijer-Hoogeveen M, Evers JL, Van Golde RJ, De Die-Smulders CE. Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD. Hum Reprod. 2015;30:484\u20139.","journal-title":"Hum Reprod"},{"key":"384_CR2","first-page":"896","volume":"81","author":"B Kwinecka-Dmitriew","year":"2010","unstructured":"Kwinecka-Dmitriew B, Zakrzewska M, Latos-Biele\u0144ska A, Skrzypczak J. Frequency of chromosomal aberrations in material from abortions. Ginekol Pol. 2010;81:896\u2013901.","journal-title":"Ginekol Pol"},{"key":"384_CR3","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1007\/s00439-007-0359-6","volume":"121","author":"LE Vissers","year":"2007","unstructured":"Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Hum Genet. 2007;121:697\u2013709.","journal-title":"Hum Genet"},{"key":"384_CR4","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1136\/jmg.2008.065094","volume":"46","author":"L Roos","year":"2009","unstructured":"Roos L, Jonch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Peterson B, Brondum-Nielsen K, Kurchhoff M. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. J Med Genet. 2009;46:703\u201310.","journal-title":"J Med Genet"},{"key":"384_CR5","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1186\/s13039-016-0284-2","volume":"9","author":"T Wu","year":"2016","unstructured":"Wu T, Yin B, Zhu Y, Li G, Ye L, Chen C, Zeng Y, Liang D. Molecular cytogenetic analysis of early spontaneous abortions conceived from varying assisted reproductive technology procedures. Mol Cytogenet. 2016;9:79\u201384.","journal-title":"Mol Cytogenet"},{"key":"384_CR6","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1016\/j.ajhg.2015.10.003","volume":"97","author":"B Yuan","year":"2015","unstructured":"Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR. Nonrecurrent 17p11.2p12 rearrangement events that result in two concomitant genomic disorders: the PMP22-RAI1 contiguous gene duplication syndrome. Am J Hum Genet. 2015;97:691\u2013707.","journal-title":"Am J Hum Genet"},{"key":"384_CR7","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1186\/1471-2350-13-93","volume":"13","author":"V Capra","year":"2012","unstructured":"Capra V, Mirabelli-Badenier M, Stagnaro M, Rossi A, Tassano E, Gimelli S, Gimelli G. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems. BMC Med Genet. 2012;13:93\u20139.","journal-title":"BMC Med Genet"},{"key":"384_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fgene.2018.00080","volume":"9","author":"SM Blazejewski","year":"2018","unstructured":"Blazejewski SM, Bennison SA, Smith TH, Toyo-Oka K. Neurodevelopmental genetic diseases associated with microdeletions and microduplications of chromosome 17p13.3. Front Genet. 2018;9:1\u201318.","journal-title":"Front Genet"},{"key":"384_CR9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1371\/journal.pgen.1002247","volume":"7","author":"E Outwin","year":"2011","unstructured":"Outwin E, Carpenter G, Bi W, Withers A, Lupski JR, O'Driscoll M. Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. PLoS Genet. 2011;7:1\u201313.","journal-title":"PLoS Genet"},{"key":"384_CR10","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1136\/jmg.2009.069906","volume":"47","author":"DL Bruno","year":"2010","unstructured":"Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgstr\u00f6m B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet. 2010;47:299\u2013311.","journal-title":"J Med Genet"},{"key":"384_CR11","doi-asserted-by":"publisher","first-page":"1144","DOI":"10.1038\/ejhg.2011.97","volume":"19","author":"CM Armour","year":"2011","unstructured":"Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE. 17p13.3 microduplications are associated with split-hand\/foot malformation and long-bone deficiency (SHFLD). Eur J Hum Genet. 2011;19:1144\u201351.","journal-title":"Eur J Hum Genet"},{"key":"384_CR12","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1136\/jmg.32.4.275","volume":"32","author":"DT Pilz","year":"1995","unstructured":"Pilz DT, Dalton A, Long A, Jaspan T, Maltby EL, Quarrell OWJ. Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism. J Med Genet. 1995;32:275\u20138.","journal-title":"J Med Genet"},{"key":"384_CR13","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1038\/ng.302","volume":"41","author":"W Bi","year":"2009","unstructured":"Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O. Increased LIS1 expression affects human and mouse brain development. Nat Genet. 2009;41:168\u201377.","journal-title":"Nat Genet"},{"key":"384_CR14","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1136\/jmedgenet-2011-100409","volume":"49","author":"E Klopocki","year":"2012","unstructured":"Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, M\u00e4kitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet. 2012;49:119\u201325.","journal-title":"J Med Genet"},{"key":"384_CR15","doi-asserted-by":"crossref","unstructured":"Carter TC, Sicko RJ, Kay DM, Browne ML, Romitti PA, Edmunds ZL, Liu A, Fan R, Druschel CM, Caggana M. Copy-number variants and candidate gene mutations in isolated split hand\/foot malformation. J Hum Genet. 2017;62:877\u201384.","DOI":"10.1038\/jhg.2017.56"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-018-0384-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12920-018-0384-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-018-0384-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,19]],"date-time":"2019-08-19T19:05:05Z","timestamp":1566241505000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-018-0384-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,20]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["384"],"URL":"https:\/\/doi.org\/10.1186\/s12920-018-0384-4","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,8,20]]},"assertion":[{"value":"26 July 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 August 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 August 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Research have been performed in accordance with the Declaration of Helsinki and accepted standards of ethics. The consent of the relevant bioethics committee was obtained: Bioethics Committee of Nicolaus Copernicus University in Toru\u0144 at the Collegium Medicum im. Ludwik Rydygier in Bydgoszcz. All authors signed a written informed consent for the publication of the article. All patients signed written informed consent for take part in the study.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All patients signed written informed consent for the publication of their clinical data. For patients with intellectual disabilities, written consent for publication was obtained by the parents\/legal guardians.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"69"}}