Table 3 Summarized data about PT21 cases mapped in this work
Case | Diagnosis | Sex | Age | Karyotype | Coordinates (GRCH38) | Method | Country | Reference |
|---|---|---|---|---|---|---|---|---|
1 | DS | F | 0–2 yrs | 46,XX,idic (21)(q22.3) | 21q11.2q22.3 (14,145,727-43,860,444) × 3, 21q22.3 (43,927,315-46,670,405) × 1 | FISH aCGH | Italy | This work |
2 | Non-DS | F | 0–9 yrs | 46,XX,Der(20)t(20;21) (p13-;q22.3+) | 20p13 (87,137 2,197,493 × 1, 2,210,152 × 2), 21q22.2q22.3 (39,486,350 × 2, 39,502,312-46,670,405 × 3) | FISH aCGH | Italy | This work |
3 | DS | F | 1 mos | 46,XX,idic(21)(p11.2->q22.3::q22.3->p11.2) | 21p11.2q22.3 (10,810,857-45,448,165) × 3 21q22.3 (45,471,378-46,664,244) × 1 | Banding FISH aCGH | Pennsylvania (US) | [19] |
4 | Non-DS | M | 6 mos | 46,XY | 21q22.3 (46,062,296-46,623,792)3 | aCGH | Taiwan | [20] |