{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T11:32:31Z","timestamp":1770204751763,"version":"3.49.0"},"reference-count":34,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T00:00:00Z","timestamp":1710115200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with cytogenetic diagnosis caused by tissue-specific mosaicism and usually a low percentage of peripheral blood cells containing sSMC. Such tissue-specific mosaicism also complicates a detailed analysis of the sSMC, which, along with the assessment of mosaicism in different tissues, is an important part of cytogenetic diagnosis in PKS. Unfortunately, a full-fledged diagnosis in PKS is either practically impossible or complicated. On the one hand, this is due to problems with the biopsy of various tissues (skin biopsy with fibroblast culture is most often used in practice); on the other - a low percentage of dividing peripheral blood cells containing sSMC, which often significantly complicates the analysis of its composition and organization. In the present study, a detailed analysis of sSMC was carried out in a patient with a characteristic clinical picture of PKS. A relatively high percentage of peripheral blood cells with sSMC (50%) made it possible to perform a detailed molecular cytogenetic analysis of <jats:italic>de novo<\/jats:italic> sSMC using chromosomal <jats:italic>in situ<\/jats:italic> suppression hybridization (CISS-hybridization), multicolor FISH (mFISH), multicolor chromosome banding (MCB), array CGH (aCGH), and quantitative real-time PCR (qPCR), and short tandem repeat (STR) - analysis. As a result, it was found that the sSMC is not a typical PKS derivative of chromosome 12. In contrast to the classical i(12)(p10) for PKS, the patient\u2019s cells contained an acrocentric chromosome consisting of 12p material. Clusters of telomeric repeats were found at the both ends of the sSMC. Furthemore, the results of aCGH and qPCR indicate the presence of interstitial 8.9\u00a0Mb duplication at 12p13.1-p12.1 within the sSMC, which leads to different representations of DNA from different segments of 12p within cells containing sSMC. The obtained data raise the question of the instability of the sSMC and, as a consequence, the possible presence of additional rearrangements, which, in traditional cytogenetic analysis of patients with PKS, are usually described as i(12)(p10).<\/jats:p>","DOI":"10.3389\/fgene.2024.1331066","type":"journal-article","created":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T05:03:24Z","timestamp":1710133404000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication"],"prefix":"10.3389","volume":"15","author":[{"given":"T. V.","family":"Karamysheva","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. N.","family":"Lebedev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. I.","family":"Minaycheva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. P.","family":"Nazarenko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. A.","family":"Kashevarova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. A.","family":"Fedotov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. A.","family":"Skryabin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. E.","family":"Lopatkina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. D.","family":"Cheremnykh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. A.","family":"Fonova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. V.","family":"Nikitina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. A.","family":"Sazhenova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. M.","family":"Skleimova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. A.","family":"Kolesnikov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. V.","family":"Drozdov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y. S.","family":"Yakovleva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. N.","family":"Seitova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. E.","family":"Orishchenko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. B.","family":"Rubtsov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,3,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1159\/000015245","article-title":"High resolution multicolor-banding: a new technique for refined FISH analysis of human chromosomes","volume":"84","author":"Chudoba","year":"1999","journal-title":"Cytogenet. Genome Res."},{"key":"B2","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1159\/000097413","article-title":"Characterisation of supernumerary chromosomal markers: a study of 13 cases","volume":"116","author":"Douet-Guilbert","year":"2007","journal-title":"Cytogenet. Genome Res."},{"key":"B3","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1038\/sj.ejhg.5200673","article-title":"Partial tetrasomy 12pter-12p 12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker","volume":"9","author":"Dufke","year":"2001","journal-title":"Eur. J. Hum. Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1016\/S1672-0229(07)60009-6","article-title":"A brief review of short tandem repeat mutation","volume":"5","author":"Fan","year":"2007","journal-title":"Genomics. Proteomics Bioinforma."},{"key":"B5","unstructured":"Imprinted genes: by species2024"},{"key":"B6","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1002\/1097-0320(20010201)43:2<101::AID-CYTO1024>3.0.CO;2-8","article-title":"Improvements in cytogenetic slide preparation: controlled chromosome spreading, chemical aging and gradual denaturing","volume":"43","author":"Henegariu","year":"2001","journal-title":"Cytometry"},{"key":"B7","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1023\/A:1016629409285","article-title":"Clinical and molecular cytogenetic analysis of a rare case of mosaicism for partial trisomy 3p and partial trisomy 10q in humans","volume":"37","author":"Karamysheva","year":"2001","journal-title":"Russ. J. Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"3255","DOI":"10.3390\/biomedicines10123255","article-title":"The precise breakpoint mapping in paracentric inversion 10q22.2q23.3 by comprehensive cytogenomic analysis, multicolor banding, and single-copy chromosome sequencing","volume":"10","author":"Karamysheva","year":"2022","journal-title":"Biomedicines"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1511","DOI":"10.3390\/genes11121511","article-title":"Two separate cases: complex chromosomal abnormality involving three chromosomes and small supernumerary marker chromosome in patients with impaired reproductive function","volume":"11","author":"Karamysheva","year":"2020","journal-title":"Genes (Basel)."},{"key":"B10","doi-asserted-by":"publisher","first-page":"e23095","DOI":"10.7759\/cureus.23095","article-title":"Congenital diaphragmatic hernia repair in a patient with pallister-killian mosaic syndrome and left ventricular hypoplasia","volume":"14","author":"Kostyk","year":"2022","journal-title":"Cureus"},{"key":"B11","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1007\/s004390100571","article-title":"AcroM fluorescent in situ hybridization analyses of marker chromosomes","volume":"109","author":"Langer","year":"2001","journal-title":"Hum. Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.3390\/biomedicines9081030","article-title":"Prenatal diagnosis of small supernumerary marker chromosome 10 by array-based comparative genomic hybridization and microdissected chromosome sequencing","volume":"9","author":"Lebedev","year":"2021","journal-title":"Biomedicines"},{"key":"B13","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1007\/BF01790090","article-title":"Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries","volume":"80","author":"Lichter","year":"1988","journal-title":"Hum. Genet."},{"key":"B14","volume-title":"Small supernumerary marker chromosomes (sSMC) a guide for human geneticists and clinicians; with contributions by unique (The Rare Chromosome Disorder Support Group)","author":"Liehr","year":"2012"},{"key":"B15","doi-asserted-by":"publisher","first-page":"I11","DOI":"10.1186\/1755-8166-7-S1-I11","article-title":"Small supernumerary marker chromosomes \u2013 an update","volume":"7","author":"Liehr","year":"2014","journal-title":"Mol. Cytogenet."},{"key":"B16","doi-asserted-by":"publisher","first-page":"1131","DOI":"10.3389\/fgene.2019.01131","article-title":"Mosaicism: reason for normal phenotypes in carriers of small supernumerary marker chromosomes with known adverse outcome. A systematic review","volume":"10","author":"Liehr","year":"2019","journal-title":"Front. Genet."},{"key":"B17","doi-asserted-by":"publisher","first-page":"213","DOI":"10.2174\/1389202023350525","article-title":"Multicolor-FISH approaches for the characterization of human chromosomes in clinical genetics and tumor cytogenetics","volume":"3","author":"Liehr","year":"","journal-title":"Curr. Genomics"},{"key":"B18","volume-title":"Small supernumerary marker chromosomes (sSMC) in humans Cytogenetic and Genome Research","author":"Liehr","year":""},{"key":"B19","doi-asserted-by":"publisher","first-page":"335","DOI":"10.3892\/ijmm.9.4.335","article-title":"Microdissection based high resolution multicolor banding for all 24 human chromosomes","volume":"9","author":"Liehr","year":"","journal-title":"Int. J. Mol. Med."},{"key":"B20","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1023\/B:CHRO.0000021916.18019.1c","article-title":"Molecular\u2013cytogenetic characterization of the origin and the presence of pericentromeric euchromatin on minute supernumerary marker chromosomes (SMCs)","volume":"12","author":"Liehr","year":"","journal-title":"Chromosome Res."},{"key":"B21","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1159\/000064043","article-title":"Multicolor chromosome banding (MCB) with YAC\/BAC-based probes and region-specific microdissection DNA libraries","volume":"97","author":"Liehr","year":"","journal-title":"Cytogenet. Genome Res."},{"key":"B22","doi-asserted-by":"crossref","DOI":"10.1159\/isbn.978-3-318-06867-2","volume-title":"ISCN 2020: an international system for human cytogenomic nomenclature","author":"McGowan-Jordan","year":"2020"},{"key":"B23","doi-asserted-by":"publisher","first-page":"109330","DOI":"10.1016\/j.celrep.2021.109330","article-title":"Principles of 3D compartmentalization of the human genome","volume":"35","author":"Nichols","year":"2021","journal-title":"Cell Rep."},{"key":"B24","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1007\/s004390100459","article-title":"A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH)","volume":"108","author":"Nietzel","year":"2001","journal-title":"Hum. Genet."},{"key":"B25","doi-asserted-by":"publisher","first-page":"4325","DOI":"10.1038\/s41598-021-83399-3","article-title":"Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming","volume":"11","author":"Nikitina","year":"2021","journal-title":"Sci. Rep."},{"key":"B26","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1002\/mgg3.351","article-title":"A review of structural brain abnormalities in Pallister\u2010Killian syndrome","volume":"6","author":"Poulton","year":"2018","journal-title":"Mol. Genet. Genomic Med."},{"key":"B27","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1159\/000056786","article-title":"Zoo-FISH with region-specific paints for mink chromosome 5q: delineation of inter- and intrachromosomal rearrangements in human, pig, and fox","volume":"90","author":"Rubtsov","year":"2000","journal-title":"Cytogenet. Genome Res."},{"key":"B28","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMES","volume":"298","author":"Seabright","year":"1971","journal-title":"Lancet"},{"key":"B29","volume-title":"ISCN 2013: an international system for human cytogenetic nomenclature","author":"Shaffer","year":"2013"},{"key":"B30","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1007\/s00439-003-1016-3","article-title":"Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification","volume":"114","author":"Starke","year":"2003","journal-title":"Hum. Genet."},{"key":"B31","doi-asserted-by":"publisher","first-page":"718","DOI":"10.1016\/0888-7543(92)90147-K","article-title":"Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer","volume":"13","author":"Telenius","year":"1992","journal-title":"Genomics"},{"key":"B32","doi-asserted-by":"publisher","first-page":"e115","DOI":"10.1093\/nar\/gks596","article-title":"Primer3-new capabilities and interfaces","volume":"40","author":"Untergasser","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"B33","doi-asserted-by":"publisher","first-page":"1269","DOI":"10.1086\/340426","article-title":"High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization","volume":"70","author":"Veltman","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"B34","volume-title":"Human chromosomes \u2013 manual of basic technologies","author":"Verma","year":"1998"}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2024.1331066\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T05:03:44Z","timestamp":1710133424000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2024.1331066\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,11]]},"references-count":34,"alternative-id":["10.3389\/fgene.2024.1331066"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2024.1331066","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,11]]},"article-number":"1331066"}}