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Table 1 Review of cases, combining trisomy 21 and polysomy X

From: Double aneuploidy 48,ХХХ,+21 of a Bulgarian newborn with Down phenotype: a case report

AuthorYearDescriptionReference
Breg et al.1962First case described[5]
Day et al.1963Double aneuploidy in combination with retinoblastoma[6]
Chen et al.1970Double aneuploidy supposedly associated with low birth weight[7]
Papp et al.1977Three cases with 48, XXX,+21 of 362 cases in total[8]
Park et al.1995Prenatal detection, pregnancy was terminated[9]
Kovaleva et al.200514 cases of 48,XXX,+21[10]
Balwan et al.2008Typical Down’s syndrome phenotype, no features of polysomy X[1]
Guzel et al.2009Prenatal detection, pregnancy was terminated, both extra chromosomes were maternal[11]
Sheth et al.2011Typical Down’s syndrome phenotype, no features of polysomy X[12]
Uwineza et al.2012Typical features of Down’s syndrome, minor features of triple X syndrome—hypotonia and seizures[13]
Vergara-Mendez et al.2018Typical features of Down’s syndrome[14]
Tair and Gizi2019Typical features of Down’s syndrome, multiple congenital malformations[15]