{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T00:34:01Z","timestamp":1783038841813,"version":"3.54.6"},"reference-count":99,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Turner syndrome (TS) is caused by the total or partial loss of the second sex chromosome; it occurs in 1 every 2,500\u20133,000 live births. The clinical phenotype is highly variable and includes short stature and gonadal dysgenesis. In 1959, the chromosomal origin of the syndrome was recognized; patients had 45 chromosomes with a single X chromosome. TS presents numerical and structural abnormalities in the sex chromosomes, interestingly only 40% have a 45, X karyotype. The rest of the chromosomal abnormalities include mosaics, deletions of the short and long arms of the X chromosome, rings, and isochromosomes. Despite multiple studies to establish a relationship between the clinical characteristics and the different chromosomal variants in TS, a clear association cannot yet be established. Currently, different mechanisms involved in the phenotype have been explored. This review focuses to analyze the different chromosomal abnormalities and phenotypes in TS and discusses the possible mechanisms that lead to these abnormalities.<\/jats:p>","DOI":"10.1055\/s-0043-1770982","type":"journal-article","created":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T18:56:12Z","timestamp":1689965772000},"page":"263-272","source":"Crossref","is-referenced-by-count":13,"title":["Chromosomal Abnormalities of Interest in Turner Syndrome: An Update"],"prefix":"10.53391","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3875-4532","authenticated-orcid":false,"given":"Marisol","family":"Ibarra-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Department of Genetics, \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d University Hospital of the Autonomous University of Nuevo Le\u00f3n, Monterrey, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3668-1613","authenticated-orcid":false,"given":"Luis Daniel","family":"Campos-Acevedo","sequence":"additional","affiliation":[{"name":"Department of Genetics, \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d University Hospital of the Autonomous University of Nuevo Le\u00f3n, Monterrey, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1442-9089","authenticated-orcid":false,"given":"Laura E.","family":"Mart\u00ednez de Villarreal","sequence":"additional","affiliation":[{"name":"Department of Genetics, \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d University Hospital of the Autonomous University of Nuevo Le\u00f3n, Monterrey, 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Genet"},{"issue":"05","key":"ref4","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1210\/endo-23-5-566","article-title":"A syndrome of \u0131nfant\u0131l\u0131sm, congen\u0131tal webbed neck, and cub\u0131tus valgus","volume":"23","author":"H H Turner","year":"1938","journal-title":"Endocrinology"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/S0140-6736(59)91893-8","article-title":"A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)","volume":"1","author":"C E Ford","year":"1959","journal-title":"Lancet"},{"issue":"10","key":"ref6","doi-asserted-by":"crossref","first-page":"3897","DOI":"10.1210\/jc.2006-0558","article-title":"Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome","volume":"91","author":"K Stochholm","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"issue":"04","key":"ref7","first-page":"209","article-title":"Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark","volume":"26","author":"J Nielsen","year":"1990","journal-title":"Birth Defects Orig Artic Ser"},{"issue":"04","key":"ref8","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s00439-014-1420-x","article-title":"Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss","volume":"133","author":"E B Hook","year":"2014","journal-title":"Hum Genet"},{"issue":"05","key":"ref9","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1111\/cen.13394","article-title":"The Turner syndrome life course project: Karyotype-phenotype analyses across the lifespan","volume":"87","author":"A Cameron-Pimblett","year":"2017","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"02","key":"ref10","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1002\/ajmg.10506","article-title":"Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype","volume":"111","author":"A Uematsu","year":"2002","journal-title":"Am J Med Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1017\/S0003480097006507","article-title":"Turner syndrome: a cytogenetic and molecular study","volume":"61","author":"P Jacobs","year":"1997","journal-title":"Ann Hum Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/S0140-6736(01)05487-3","article-title":"Turner's syndrome","volume":"358","author":"M B Ranke","year":"2001","journal-title":"Lancet"},{"issue":"07","key":"ref13","first-page":"3061","article-title":"Recommendations for the diagnosis and management of Turner syndrome","volume":"86","author":"P Saenger","year":"2001","journal-title":"J Clin Endocrinol 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Landin-Wilhelmsen","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"issue":"22","key":"ref23","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1136\/heartjnl-2017-312658","article-title":"Cardiovascular imaging in Turner syndrome: state-of-the-art practice across the lifespan","volume":"104","author":"K H Mortensen","year":"2018","journal-title":"Heart"},{"issue":"04","key":"ref24","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1297\/cpe.24.167","article-title":"Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan","volume":"24","author":"T Tanaka","year":"2015","journal-title":"Clin Pediatr Endocrinol"},{"issue":"04","key":"ref25","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1093\/humrep\/dew012","article-title":"Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome","volume":"31","author":"V Bernard","year":"2016","journal-title":"Hum Reprod"},{"issue":"01","key":"ref26","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1186\/s13104-018-3950-0","article-title":"Prevalence of autoimmune thyroid diseases among the Turner Syndrome patients: meta-analysis of cross sectional studies","volume":"11","author":"S OO Mohamed","year":"2018","journal-title":"BMC Res Notes"},{"issue":"09","key":"ref27","doi-asserted-by":"crossref","first-page":"3289","DOI":"10.1210\/jc.2009-0384","article-title":"X-chromosome gene dosage and the risk of diabetes in Turner syndrome","volume":"94","author":"V K Bakalov","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"07","key":"ref28","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.2337\/diacare.21.7.1062","article-title":"Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner's syndrome. 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Patient's age at the time of diagnosis in relation to chromosomal findings","volume":"1","author":"A Kleczkowska","year":"1990","journal-title":"Genet Couns"},{"issue":"03","key":"ref35","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/jmg.39.3.217","article-title":"Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome","volume":"39","author":"V P Sybert","year":"2002","journal-title":"J Med Genet"},{"issue":"05","key":"ref36","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1067\/mpd.2001.118571","article-title":"Phenotype, ovarian function, and growth in patients with 45,X\/47,XXX Turner mosaicism: implications for prenatal counseling and estrogen therapy at puberty","volume":"139","author":"J Blair","year":"2001","journal-title":"J Pediatr"},{"issue":"10","key":"ref37","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1007\/BF03343932","article-title":"Turner's syndrome mosaicism 45X\/47XXX: an interesting natural history","volume":"24","author":"L Tauchmanov\u00e0","year":"2001","journal-title":"J Endocrinol Invest"},{"issue":"05","key":"ref38","doi-asserted-by":"crossref","first-page":"668","DOI":"10.3109\/14767058.2010.520769","article-title":"Turner's syndrome and pregnancy: has the 45,X\/47,XXX mosaicism a different prognosis? Own clinical experience and literature review","volume":"24","author":"S Bouchlariotou","year":"2011","journal-title":"J Matern Fetal Neonatal Med"},{"issue":"04","key":"ref39","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1111\/j.1399-0004.1975.tb01498.x","article-title":"A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities","volume":"8","author":"J L Hamerton","year":"1975","journal-title":"Clin Genet"},{"issue":"08","key":"ref40","doi-asserted-by":"crossref","first-page":"E1540","DOI":"10.1210\/jc.2012-1388","article-title":"45,X\/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function\u2014a retrospective longitudinal study","volume":"97","author":"M Lindhardt Johansen","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"05","key":"ref41","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1111\/j.1365-2265.2007.02807.x","article-title":"Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome","volume":"66","author":"M El-Mansoury","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"07","key":"ref42","doi-asserted-by":"crossref","first-page":"1983","DOI":"10.1210\/clinem\/dgac167","article-title":"Women with Turner syndrome are both estrogen and androgen deficient: the impact of hormone replacement therapy","volume":"107","author":"M H Viuff","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/j.jfma.2018.07.003","article-title":"The spectrum of 45,X\/46,XY mosaicism in Taiwanese children: the experience of a single center","volume":"118","author":"Y C Huang","year":"2019","journal-title":"J Formos Med Assoc"},{"issue":"10","key":"ref44","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1210\/jcem-15-10-1161","article-title":"Chromosomal sex in gonadal dysgenesis (ovarian agenesis): relationship to male pseudohermaphrodism and theories of human sex differentiation","volume":"15","author":"M M Grumbach","year":"1955","journal-title":"J Clin Endocrinol Metab"},{"issue":"03","key":"ref45","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1007\/s00431-011-1600-9","article-title":"Description of children with 45,X\/46,XY karyotype","volume":"171","author":"H Tosson","year":"2012","journal-title":"Eur J Pediatr"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1159\/000363642","article-title":"Managing the risk of germ cell tumourigenesis in disorders of sex development patients","volume":"27","author":"M Cools","year":"2014","journal-title":"Endocr Dev"},{"issue":"01","key":"ref47","first-page":"114","article-title":"[Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome]","volume":"34","author":"A BT de Marqui","year":"2016","journal-title":"Rev Paul Pediatr"},{"issue":"03","key":"ref48","first-page":"273","article-title":"Ullrich-Turner syndrome and tumor risk: is there another chance to early gonadectomy in positive TSPY and SRY patients?","volume":"26","author":"M Silveri","year":"2016","journal-title":"Eur J Pediatr Surg"},{"issue":"06","key":"ref49","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1530\/EJE-22-0593","article-title":"Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X\/46,XY karyotype","volume":"187","author":"D Karila","year":"2022","journal-title":"Eur J Endocrinol"},{"issue":"05","key":"ref50","first-page":"1034","article-title":"A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation","volume":"49","author":"I Lorda-Sanchez","year":"1991","journal-title":"Am J Hum Genet"},{"issue":"01","key":"ref51","first-page":"154","article-title":"Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation","volume":"58","author":"D J Wolff","year":"1996","journal-title":"Am J Hum Genet"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1017\/S0003480097006519","article-title":"Molecular characterization of isochromosomes of Xq","volume":"61","author":"R S James","year":"1997","journal-title":"Ann Hum Genet"},{"issue":"03","key":"ref53","first-page":"297","article-title":"Chromosome abnormalities and genetic counseling","volume":"12","author":"R JM Gardner","year":"2011","journal-title":"Clin Med (Lond)"},{"issue":"01","key":"ref54","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1086\/504600","article-title":"Human genomic deletions mediated by recombination between Alu elements","volume":"79","author":"S K Sen","year":"2006","journal-title":"Am J Hum Genet"},{"issue":"21","key":"ref55","doi-asserted-by":"crossref","first-page":"2896","DOI":"10.1038\/emboj.2008.205","article-title":"Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair","volume":"27","author":"H M Kim","year":"2008","journal-title":"EMBO J"},{"issue":"07","key":"ref56","doi-asserted-by":"crossref","first-page":"e101607","DOI":"10.1371\/journal.pone.0101607","article-title":"Tandem repeats and G-rich sequences are enriched at human CNV breakpoints","volume":"9","author":"P Bose","year":"2014","journal-title":"PLoS One"},{"issue":"10","key":"ref57","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.tig.2015.05.010","article-title":"Human structural variation: mechanisms of chromosome rearrangements","volume":"31","author":"B Weckselblatt","year":"2015","journal-title":"Trends Genet"},{"issue":"01","key":"ref58","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1038\/ng0597-54","article-title":"Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome","volume":"16","author":"E Rao","year":"1997","journal-title":"Nat Genet"},{"issue":"04","key":"ref59","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1210\/er.2016-1036","article-title":"A track record on SHOX: from basic research to complex models and therapy","volume":"37","author":"A Marchini","year":"2016","journal-title":"Endocr Rev"},{"issue":"12","key":"ref60","doi-asserted-by":"crossref","first-page":"4613","DOI":"10.1210\/jcem.84.12.6289","article-title":"Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome","volume":"84","author":"T Kosho","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"ref61","doi-asserted-by":"crossref","first-page":"5498","DOI":"10.1210\/jcem.86.11.8058","article-title":"Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients","volume":"86","author":"T Ogata","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"issue":"03","key":"ref62","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1007\/s004390000253","article-title":"Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features","volume":"106","author":"M Adachi","year":"2000","journal-title":"Hum Genet"},{"issue":"03","key":"ref63","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1086\/303039","article-title":"The Turner syndrome-associated neurocognitive phenotype maps to distal Xp","volume":"67","author":"J L Ross","year":"2000","journal-title":"Am J Hum Genet"},{"issue":"01","key":"ref64","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/1744-9081-3-24","article-title":"A Turner syndrome neurocognitive phenotype maps to Xp22.3","volume":"3","author":"A R Zinn","year":"2007","journal-title":"Behav Brain Funct"},{"issue":"01","key":"ref65","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejmg.2012.08.012","article-title":"Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility","volume":"56","author":"C L Mercer","year":"2013","journal-title":"Eur J Med Genet"},{"issue":"03","key":"ref66","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1056\/NEJM198707163170301","article-title":"Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome","volume":"317","author":"C M Krauss","year":"1987","journal-title":"N Engl J Med"},{"issue":"01","key":"ref67","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1006\/geno.1996.4542","article-title":"Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21","volume":"40","author":"C Sala","year":"1997","journal-title":"Genomics"},{"key":"ref68","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1186\/1471-2350-12-171","article-title":"Mechanisms of ring chromosome formation, ring instability and clinical consequences","volume":"12","author":"R S Guilherme","year":"2011","journal-title":"BMC Med Genet"},{"issue":"05","key":"ref69","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1002\/(SICI)1096-8628(19991222)87:5<384::AID-AJMG3>3.0.CO;2-R","article-title":"Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of \u201ccomplete ring\u201d syndrome","volume":"87","author":"S Sigurdardottir","year":"1999","journal-title":"Am J Med Genet"},{"issue":"01","key":"ref70","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.2010.080382","article-title":"Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients","volume":"48","author":"L K Conlin","year":"2011","journal-title":"J Med Genet"},{"issue":"05","key":"ref71","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1034\/j.1399-0004.2002.620511.x","article-title":"Ring syndrome caused by ring chromosome 7 without loss of subtelomeric 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Kubota","year":"2002","journal-title":"Cytogenet Genome Res"},{"issue":"04","key":"ref81","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/s11689-011-9089-0","article-title":"Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders","volume":"3","author":"R C Knickmeyer","year":"2011","journal-title":"J Neurodev Disord"},{"key":"ref82","first-page":"597314","article-title":"A turner syndrome patient carrying a mosaic distal x chromosome marker","volume":"2014","author":"R LP Mazzaschi","year":"2014","journal-title":"Case Rep Genet"},{"issue":"01","key":"ref83","first-page":"002","article-title":"Mechanisms of origin and clinical effects of multiple small supernumerary marker chromosomes, each derived from a different chromosome","volume":"1","author":"R Hochstenbach","year":"2017","journal-title":"OBM 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Genet"},{"key":"ref87","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/s13148-018-0477-0","article-title":"Epigenetics in Turner syndrome","volume":"10","author":"F \u00c1lvarez-Nava","year":"2018","journal-title":"Clin Epigenetics"},{"issue":"01","key":"ref88","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/ajmg.c.31683","article-title":"Epigenetics and genomics in Turner syndrome","volume":"181","author":"M Viuff","year":"2019","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"10","key":"ref89","doi-asserted-by":"crossref","first-page":"e1007692","DOI":"10.1371\/journal.pgen.1007692","article-title":"TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome","volume":"14","author":"H Corbitt","year":"2018","journal-title":"PLoS Genet"},{"key":"ref90","doi-asserted-by":"crossref","first-page":"34220","DOI":"10.1038\/srep34220","article-title":"Widespread DNA hypomethylation and differential gene expression in Turner syndrome","volume":"6","author":"C Trolle","year":"2016","journal-title":"Sci Rep"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"77","DOI":"10.7150\/jgen.8123","article-title":"Chromosome imbalance as a driver of sex disparity in disease","volume":"2","author":"L K Abramowitz","year":"2014","journal-title":"J Genomics"},{"issue":"03","key":"ref92","doi-asserted-by":"crossref","first-page":"E460","DOI":"10.1210\/jc.2011-2916","article-title":"Genomic imprinting effects on cognitive and social abilities in prepubertal girls with Turner syndrome","volume":"97","author":"J F Lepage","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"02","key":"ref93","doi-asserted-by":"crossref","first-page":"129","DOI":"10.2174\/138920207780368141","article-title":"The human pseudoautosomal region (PAR): origin, function and future","volume":"8","author":"A Helena Mangs","year":"2007","journal-title":"Curr Genomics"},{"issue":"01","key":"ref94","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1186\/1471-2164-11-82","article-title":"Transcriptional changes in response to X chromosome dosage in the mouse: implications for X inactivation and the molecular basis of Turner Syndrome","volume":"11","author":"A M Lopes","year":"2010","journal-title":"BMC Genomics"},{"key":"ref95","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/351406a0","article-title":"X-chromosome inactivation may explain the difference in viability of XO humans and mice","volume":"351","author":"A Ashworth","year":"1991","journal-title":"Nature"},{"key":"ref96","doi-asserted-by":"crossref","first-page":"S8","DOI":"10.1186\/1471-2164-14-S5-S8","article-title":"Gene expression analysis of induced pluripotent stem cells from aneuploid chromosomal syndromes","volume":"14","author":"R Zhang","year":"2013","journal-title":"BMC 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