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
Author | Year | Description | Reference |
|---|---|---|---|
Breg et al. | 1962 | First case described | [5] |
Day et al. | 1963 | Double aneuploidy in combination with retinoblastoma | [6] |
Chen et al. | 1970 | Double aneuploidy supposedly associated with low birth weight | [7] |
Papp et al. | 1977 | Three cases with 48, XXX,+21 of 362 cases in total | [8] |
Park et al. | 1995 | Prenatal detection, pregnancy was terminated | [9] |
Kovaleva et al. | 2005 | 14 cases of 48,XXX,+21 | [10] |
Balwan et al. | 2008 | Typical Down’s syndrome phenotype, no features of polysomy X | [1] |
Guzel et al. | 2009 | Prenatal detection, pregnancy was terminated, both extra chromosomes were maternal | [11] |
Sheth et al. | 2011 | Typical Down’s syndrome phenotype, no features of polysomy X | [12] |
Uwineza et al. | 2012 | Typical features of Down’s syndrome, minor features of triple X syndrome—hypotonia and seizures | [13] |
Vergara-Mendez et al. | 2018 | Typical features of Down’s syndrome | [14] |
Tair and Gizi | 2019 | Typical features of Down’s syndrome, multiple congenital malformations | [15] |