{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T14:47:56Z","timestamp":1789051676237,"version":"build-2803163510"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T00:00:00Z","timestamp":1711065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T00:00:00Z","timestamp":1711065600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","award":["075-15-2021-1058"],"award-info":[{"award-number":["075-15-2021-1058"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cytogenet"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report here a family (mother and her two children) diagnosed with PTLS. When examining children, neurological and psychological (neuropsychiatric) manifestations (speech delay, mild mental retardation), motor disorders, craniofacial dysmorphism (microcephaly, dolichocephaly, triangular face, wide bulging forehead, long chin, antimongoloid slant, \"elfin\" ears) were revealed. The suspected clinical diagnosis was confirmed by MLPA and CMA molecular genetic testing which revealed the presence of a segmental aneusomy; microduplication in the 17p11.2 region.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Children with PTLS can have a clinically recognizable and specific phenotype: craniofacial dysmorphism, motor and neurological manifestations, which may implicate a possible genetic disease to the attending physician. Moreover, each child with this syndrome is unique and may have a different clinical picture. The management of such patients requires a multidisciplinary team approach, including medical genetic counseling.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13039-024-00673-5","type":"journal-article","created":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T17:02:33Z","timestamp":1711126953000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Family case of Potocki-Lupski syndrome"],"prefix":"10.1186","volume":"17","author":[{"given":"L. N.","family":"Kolbasin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. A.","family":"Dubrovskaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. B.","family":"Salnikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. N.","family":"Solovieva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Yu.","family":"Donnikov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. A.","family":"Illarionov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. S.","family":"Glotov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. V.","family":"Kovalenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. D.","family":"Belotserkovtseva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,22]]},"reference":[{"key":"673_CR1","unstructured":"List of rare orphan diseases of the Ministry of Health of the Russian Federation. https:\/\/minzdrav.gov.ru\/documents\/8048. The link is active as of 08\/28\/2022 (in Russian)."},{"key":"673_CR2","first-page":"164","volume-title":"Cytogenetic, molecular and clinical bases of genetically determined diseases: textbook","author":"IYu Yurov","year":"2019","unstructured":"Yurov IYu, Vorsanova SG, Voinova VYu, Churnosov MI, Yurov YuB. Cytogenetic, molecular and clinical bases of genetically determined diseases: textbook. Russia: Publishing House of the Academy of Natural Sciences; 2019. p. 164."},{"issue":"9","key":"673_CR3","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.698629","volume":"8","author":"A Grama","year":"2021","unstructured":"Grama A, S\u00eerbe C, Miclea D, C\u01ceInap SS, Huniadi D, Bulata B, Pop TL. Clinical case: Potocki-Lupsky syndrome in five brothers and sisters. Front Pediatr. 2021;8(9):698629. https:\/\/doi.org\/10.3389\/fped.2021.698629.","journal-title":"Front Pediatr"},{"key":"673_CR4","volume-title":"GeneReviews\u00ae","author":"L Potocki","year":"2017","unstructured":"Potocki L, Neira-Fresneda J, Yuan B, et al. Potocki-Lupski syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews\u00ae. Seattle: University of Washington; 2017."},{"issue":"2","key":"673_CR5","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/s0168-9525(02)02592-1","volume":"18","author":"P Stankiewicz","year":"2002","unstructured":"Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet. 2002;18(2):74\u201382. https:\/\/doi.org\/10.1016\/s0168-9525(02)02592-1.","journal-title":"Trends Genet"},{"issue":"2","key":"673_CR6","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1002\/(SICI)1096-8628(19960517)63:2<373::AID-AJMG9>3.0.CO;2-U","volume":"63","author":"A Brown","year":"1996","unstructured":"Brown A, Phelan MC, Patil S, Crawford E, Rogers RC, Schwartz C. Two patients with duplication of 17p112: the reciprocal of the Smith-Magenis syndrome deletion? Am J Med Genet. 1996;63(2):373\u20137. https:\/\/doi.org\/10.1002\/(SICI)1096-8628(19960517)63:2%3c373::AID-AJMG9%3e3.0.CO;2-U.","journal-title":"Am J Med Genet"},{"issue":"1","key":"673_CR7","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1038\/71743","volume":"24","author":"L Potocki","year":"2000","unstructured":"Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Molecular mechanism for duplication 17p11.2\u2014the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet. 2000;24(1):84\u20137. https:\/\/doi.org\/10.1038\/71743.","journal-title":"Nat Genet"},{"issue":"4","key":"673_CR8","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1086\/512864","volume":"80","author":"L Potocki","year":"2007","unstructured":"Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007;80(4):633\u201349. https:\/\/doi.org\/10.1086\/512864.","journal-title":"Am J Hum Genet"},{"key":"673_CR9","unstructured":"Official website of The PTLS Outreach Foundation. https:\/\/ptlsfoundation.org\/about-ptls-outreach-foundation\/. Link active as of 08\/28\/2022"},{"issue":"4","key":"673_CR10","first-page":"241","volume":"66","author":"SR Enikeeva","year":"2021","unstructured":"Enikeeva SR, Pankratova MS. Potocki-Lupski syndrome in a teenager with growth retardation (clinical case). Russ Bull Perinatol Pediatr. 2021;66(4):241\u20132.","journal-title":"Russ Bull Perinatol Pediatr"},{"issue":"16","key":"673_CR11","doi-asserted-by":"publisher","first-page":"2486","DOI":"10.1093\/hmg\/ddn148","volume":"17","author":"J Molina","year":"2008","unstructured":"Molina J, Carmona-Mora P, Chrast J, Krall PM, Canales CP, Lupski JR, Reymond A, Walz K. Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. Hum Mol Genet. 2008;17(16):2486\u201395.","journal-title":"Hum Mol Genet"},{"key":"673_CR12","volume-title":"GeneReviews\u00ae [Internet]","author":"L Potocki","year":"2017","unstructured":"Potocki L, Neira-Fresneda J, Yuan B, et al. Potocki-Lupski syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle: University of Washington; 2017."},{"key":"673_CR13","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1186\/s13104-015-1439-7","volume":"8","author":"DS Sumathipala","year":"2015","unstructured":"Sumathipala DS, Mandawala EN, Sumanasena SP, Dissanayake VH. 17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome. BMC Res Notes. 2015;8:506. https:\/\/doi.org\/10.1186\/s13104-015-1439-7.","journal-title":"BMC Res Notes"},{"issue":"1","key":"673_CR14","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1055\/s-0037-1604479","volume":"7","author":"AD Pratic\u00f2","year":"2018","unstructured":"Pratic\u00f2 AD, Falsaperla R, Rizzo R, Ruggieri M, Verrotti A, Pavone P. A new patient with Potocki-Lupski syndrome: a literature review. J Pediatr Genet. 2018;7(1):29\u201334. https:\/\/doi.org\/10.1055\/s-0037-1604479.","journal-title":"J Pediatr Genet"},{"issue":"7","key":"673_CR15","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1097\/01.gim.0000228215.32110.89","volume":"8","author":"S Girirajan","year":"2006","unstructured":"Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH. Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med. 2006;8(7):417\u201327. https:\/\/doi.org\/10.1097\/01.gim.0000228215.32110.89.","journal-title":"Genet Med"},{"issue":"6","key":"673_CR16","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010049","volume":"1","author":"JR Lupski","year":"2005","unstructured":"Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 2005;1(6): e49. https:\/\/doi.org\/10.1371\/journal.pgen.0010049.","journal-title":"PLoS Genet"}],"container-title":["Molecular Cytogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13039-024-00673-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13039-024-00673-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13039-024-00673-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T17:06:01Z","timestamp":1711127161000},"score":1,"resource":{"primary":{"URL":"https:\/\/molecularcytogenetics.biomedcentral.com\/articles\/10.1186\/s13039-024-00673-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,22]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["673"],"URL":"https:\/\/doi.org\/10.1186\/s13039-024-00673-5","relation":{},"ISSN":["1755-8166"],"issn-type":[{"value":"1755-8166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,22]]},"assertion":[{"value":"23 November 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 March 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 March 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Institutional Review Board of Surgut State University of the Khanty-Mansiysk Autonomous Region\u2014Yugra (Surgut, Russia), No. 17 from 21.10.2021. Written informed consent for the research was obtained from all the patients. The study was performed in accordance with the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Informed consent was obtained from all subjects involved. Written informed consent was obtained from the patient and patients\u2019 guardian to publish this paper along with images.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"6"}}