TABLE 2.
Summary of clinical phenotypes in the whole chromosome UPD(2) and UPD(9) cases.
| Origin | Imprinted genes/Gene mutation | Amniocyte (prenatal) | Blood testing (neonatal/child) | Diseases | Phenotypes | PMID | |
|---|---|---|---|---|---|---|---|
| UPD 2 | |||||||
| Zhang et al. (2019) | Pat | No/No | — | WGS and STR: completely pat UPD2 | — | Normal phenotype | 30991391 |
| Song et al. (2021) | Unknown | No/No | UPD 2 | 46,XX. | — | Normal phenotype | 33678350 |
| Carmichael et al. (2013) | Mat | No/FAM161A, NAT8, PLA2R1 | UPD 2 | 46,XX. | skeletal and renal dysplasia, immune deficiencies, growth failure, retinal degeneration and ovarian insufficiency | Severe IUGR (26w gestation), low birth weight (-3.6SD), mild global developmental delay, brachydactyly, pes planus | 23167750 |
| Hansen et al. (1997) | Mat | No/No | Placental biopsy: T2 | — | — | IUGR and oligohydramnios (24 weeks’ gestation), hypospadias | 9178319 |
| Karyotype: 46,XY | |||||||
| STR:UPD 2 | |||||||
| UPD 9 | |||||||
| Slater HR et al. (2000) | Mat | — | Karyotype:47,XX,+9[2]/46,XX[69] | 4/50 mosaic trisomy 9 | — | feeding and growth problem after birth; minor facial dysmorphism (small posteriorly rotated ears and thickened helices, micrognathia and a long, narrow face) and skeletal abnormalities | 11113900 |
| STR:UPD 9 | |||||||
| Ma et al. (2015) | Pat | — | UPD9/T9 mosaic (20%) | Isodiosomy paternal UPD9/T9 mosaic 20% | — | severe motor and intellectual disability, recurrent respiratory infection and failure to thrive. Severe growth retardation, moderate to severe hypertonia. Dysmorphic features | 26120364 |
| Chen et al. (2022) | Mat | — | 47,XX,+9[4]/46,XX[35] | Karyotype: 46,XX. | IUGR, Preeclampsia | Normal phenotype (6 months baby) | 35181026 |
| UPD9 mat/mosaic T9 (14%) | Placenta: maternal T9 | ||||||
| FISH: mosaic T9 10.7% | Postnatal FISH: no T9 | ||||||
| Chen et al. (2017) | Pat | 47,XY,+mar [25]/48,XY,+mar,+r(9) [4]/47,XY,+r(9) [1]/46, XY [6] 9p13.1q21.11 (38,792,472-71,026,063)x2.64 de novo | 47,XY,+sSMC(9) [14]/48,XY, +sSMC(9),+r(9) [10]/47,XY,+r(9) [6]/46, XY [10] | — | Normal phenotype, psychomotor and growth development | 28805612 | |
| 9p22.3q21.11(14234165–71035608)×2-3 | |||||||
| 9p24.3p22.3(216,123-14,629,321)x2 hmz | |||||||
| 9p21.3p13.2(24769722-36732597)x2 hmz, and 9q21.11q34.3(71013799-141011581)x2 hmz |