{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T03:28:50Z","timestamp":1760239730761,"version":"build-2065373602"},"reference-count":36,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2020,12,17]],"date-time":"2020-12-17T00:00:00Z","timestamp":1608163200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Education and Science of Russian Federation","award":["2019-0546 (FSUS-2020-0040)"],"award-info":[{"award-number":["2019-0546 (FSUS-2020-0040)"]}]},{"DOI":"10.13039\/501100002261","name":"Russian Foundation for Basic Research","doi-asserted-by":"publisher","award":["19-015-00084a"],"award-info":[{"award-number":["19-015-00084a"]}],"id":[{"id":"10.13039\/501100002261","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Russian State Budget  project via IC&amp;G SB RAS","award":["0324-2019-0042"],"award-info":[{"award-number":["0324-2019-0042"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening. In the current paper, we consider chromosome diagnostics in two cases of chromosome rearrangement in patients with balanced karyotype and provide the results of a detailed analysis of complex chromosomal rearrangement (CCR) involving three chromosomes and a small supernumerary marker chromosome (sSMC) in a patient with impaired reproductive function. The application of fluorescent in situ hybridization, microdissection, and multicolor banding allows for describing analyzed karyotypes in detail. In the case of a CCR, such as the one described here, the probability of gamete formation with a karyotype, showing a balance of chromosome regions, is extremely low. Recommendation for the family in genetic counseling should take into account the obtained result. In the case of an sSMC, it is critically important to identify the original chromosome from which the sSMC has been derived, even if the euchromatin material is absent. Finally, we present our view on the optimal strategy of identifying and describing sSMCs, namely the production of a microdissectional DNA probe from the sSMC combined with a consequent reverse painting.<\/jats:p>","DOI":"10.3390\/genes11121511","type":"journal-article","created":{"date-parts":[[2020,12,17]],"date-time":"2020-12-17T21:21:49Z","timestamp":1608240109000},"page":"1511","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5140-4350","authenticated-orcid":false,"given":"Tatyana V.","family":"Karamysheva","sequence":"first","affiliation":[{"name":"Institute of Cytology and Genetics, The Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatyana A.","family":"Gayner","sequence":"additional","affiliation":[{"name":"Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of Russian Academy of Sciences, 630090 Novosibirsk, Russia"},{"name":"Center of New Medical Technologies, 630090 Novosibirsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4575-5939","authenticated-orcid":false,"given":"Vladimir V.","family":"Muzyka","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics, The Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"},{"name":"Department of Genetic Technologies, Novosibirsk State University, 630090 Novosibirsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9718-9038","authenticated-orcid":false,"given":"Konstantin E.","family":"Orishchenko","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics, The Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"},{"name":"Department of Genetic Technologies, Novosibirsk State University, 630090 Novosibirsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7406-8057","authenticated-orcid":false,"given":"Nikolay B.","family":"Rubtsov","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics, The Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"},{"name":"Department of Genetic Technologies, Novosibirsk State University, 630090 Novosibirsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,12,17]]},"reference":[{"key":"ref_1","first-page":"41","article-title":"Autosomal reciprocal translocations: Prenatal selection, segregation and assessment of empirical risks for reciprocal translocation carriers of having a liveborn child with chromosome imbalance","volume":"17","author":"Shilova","year":"2018","journal-title":"Med. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Liehr, T. (2012). Formation of Small Supernumerary Marker Chromosomes. Small Supernumerary Marker Chromosomes (sSMC), Springer.","DOI":"10.1007\/978-3-642-20766-2"},{"key":"ref_3","first-page":"719","article-title":"Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics","volume":"19","author":"Liehr","year":"2007","journal-title":"Int. J. Mol. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.theriogenology.2018.11.014","article-title":"Karyomapping for simultaneous genomic evaluation and aneuploidy screening of preimplantation bovine embryos: The first live-born calves","volume":"125","author":"Turner","year":"2019","journal-title":"Theriogenology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1023\/B:CHRO.0000009298.02689.8a","article-title":"Refined genome-wide comparative map of the domestic horse, donkey and human based on cross-species chromosome painting: Insight into the occasional fertility of mules","volume":"12","author":"Yang","year":"2004","journal-title":"Chromosom. Res."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/hdy.1989.54","article-title":"The variety of sterility and gradual progression to fertility in hybrids of the horse and donkey","volume":"62","author":"Zong","year":"1989","journal-title":"Heredity (Edinb.)"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1002\/ajmg.a.35220","article-title":"Balanced complex chromosome rearrangements: Reproductive aspects. A review","volume":"158A","author":"Madan","year":"2012","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1134\/S1022795420040031","article-title":"New Sight on Assessment of Clinical Value of Human Supernumerary Marker Chromosomes","volume":"56","author":"Karamysheva","year":"2020","journal-title":"Russ. J. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","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":"ref_10","doi-asserted-by":"crossref","unstructured":"Ostroverkhova, N.V., Nazarenko, S.A., Rubtsov, N.B., Nazarenko, L.P., and Bunina, E.N. (1999). Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting. Am. J. Med. Genet.","DOI":"10.1002\/(SICI)1096-8628(19991126)87:3<217::AID-AJMG4>3.3.CO;2-R"},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Liehr, T. (2012). Small Supernumerary Marker Chromosomes and Tumors. Small Supernumerary Marker Chromosomes (sSMC), Springer.","DOI":"10.1007\/978-3-642-20766-2"},{"key":"ref_12","unstructured":"Verma, R.S., and Babu, A. (1998). Human Chromosomes\u2014Manual of Basic Technologies, Pergamon Press. [4th ed.]."},{"key":"ref_13","doi-asserted-by":"crossref","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":"ref_14","unstructured":"Karamysheva, T.B., Matveeva, V.G., Shorina, A.P., and Rubtsov, N.B. (2001). Clinical and Molecular Cytogenetic Analysis of a Rare Case of Mosaicism for Partial Trisomy 3p and Partial Trisomy 10q in Humans. Russ. J. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1007\/BF02346176","article-title":"Interstitial deletion of chromosome 6q: Precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting","volume":"97","author":"Rubtsov","year":"1996","journal-title":"Hum. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","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":"ref_17","doi-asserted-by":"crossref","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":"ref_18","doi-asserted-by":"crossref","unstructured":"McGowan-Jordan, J., Simons, A., and Schmid, M. (2016). ISCN 2016, S. Karger AG. Available online: https:\/\/www.karger.com\/Book\/Home\/271658.","DOI":"10.1159\/isbn.978-3-318-05979-3"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/0888-7543(89)90331-5","article-title":"The distribution of interspersed repetitive DNA sequences in the human genome","volume":"4","author":"Moyzis","year":"1989","journal-title":"Genomics"},{"key":"ref_20","first-page":"369","article-title":"Affinity modification of 80S ribosomes from human placenta by derivatives of tri- and hexauridylates as mRNA analogs","volume":"26","author":"Malygin","year":"1992","journal-title":"Mol. Biol. (Mosk.)"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1159\/000079301","article-title":"Comparative analysis of micro and macro B chromosomes in the Korean field mouse Apodemus peninsulae (Rodentia, Murinae) performed by chromosome microdissection and FISH","volume":"106","author":"Rubtsov","year":"2004","journal-title":"Cytogenet. Genome Res."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"4780","DOI":"10.1093\/nar\/19.17.4780","article-title":"Improved telomere detection using a telomere repeat probe (TTAGGG) n generated by PCR","volume":"19","author":"IJdo","year":"1991","journal-title":"Nucleic Acids Res."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1159\/000079572","article-title":"Small supernumerary marker chromosomes (sSMC) in humans","volume":"107","author":"Liehr","year":"2004","journal-title":"Cytogenet. Genome Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1159\/000346026","article-title":"Clinical Impact of Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes","volume":"139","author":"Liehr","year":"2013","journal-title":"Cytogenet. Genome Res."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.ejmg.2012.01.010","article-title":"Unexpected results in the constitution of small supernumerary marker chromosomes","volume":"55","author":"Vetro","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1159\/000334271","article-title":"Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques","volume":"136","author":"Yu","year":"2012","journal-title":"Cytogenet. Genome Res."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1002\/pd.4330","article-title":"De novo small supernumerary marker chromosomes detected on 143 000 consecutive prenatal diagnoses: Chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches","volume":"34","author":"Malvestiti","year":"2014","journal-title":"Prenat. Diagn."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/nature13986","article-title":"Topologically associating domains are stable units of replication-timing regulation","volume":"515","author":"Pope","year":"2014","journal-title":"Nature"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1038\/ng.3720","article-title":"The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies","volume":"49","author":"Redin","year":"2017","journal-title":"Nat. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1755-8166-1-12","article-title":"Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them","volume":"1","author":"Liehr","year":"2008","journal-title":"Mol. Cytogenet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1002\/ajmg.a.31048","article-title":"Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC","volume":"140A","author":"Liehr","year":"2006","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/s00412-018-0662-0","article-title":"Low-pass single-chromosome sequencing of human small supernumerary marker chromosomes (sSMCs) and Apodemus B chromosomes","volume":"127","author":"Makunin","year":"2018","journal-title":"Chromosoma"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1586\/erm.09.17","article-title":"Handling small supernumerary marker chromosomes in prenatal diagnostics","volume":"9","author":"Liehr","year":"2009","journal-title":"Expert Rev. Mol. Diagn."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/cge.12138","article-title":"Molecular characterization of 39 de novo sSMC: Contribution to prognosis and genetic counselling, a prospective study","volume":"85","author":"Marle","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1139\/gen-2017-0029","article-title":"Spatial organization of fibroblast and spermatocyte nuclei with different B-chromosome content in Korean field mouse, Apodemus peninsulae (Rodentia, Muridae)","volume":"60","author":"Karamysheva","year":"2017","journal-title":"Genome"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1134\/S1990519X11030072","article-title":"Spatial arrangement of macro-, midi-, and microchromosomes in transcriptionally active nuclei of growing oocytes in birds of the order galliformes","volume":"5","author":"Maslova","year":"2011","journal-title":"Cell Tissue Biol."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/12\/1511\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T10:46:13Z","timestamp":1760179573000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/12\/1511"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,17]]},"references-count":36,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2020,12]]}},"alternative-id":["genes11121511"],"URL":"https:\/\/doi.org\/10.3390\/genes11121511","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2020,12,17]]}}}