Table 3.
The clinical characteristics and results of the literature review of the 3p deletion syndrome.
| References | This patient | Wu L et al. (10) | Thomas et al. (11) | Dijkhuizen et al. (12) | Helena et al. (13) | Helena et al. (13) | Pohjolaet al. (14) | Pohjola et al. (14) | Fernandez et al. (15) | Kiraz et al. (16) | Shuib et al. (17) | Shuib et al. (17) | Shuib et al. (17) | Shuib et al. (17) | Gunnarsson et al. (18) | Cristina et al. (19) | Peltekova et al. (20) | Anupam Kaur et al. (21) | Kellogg et al. (22) | Omrani et al. (23) | Sato et al. (24) | Zhang K et al. (25) | Liu X et al. (26) | Feng L et al. (27) | Zhao X et al. (28) | Philip N et al. (29) | Moncla A et al. (30) | Colyn B et al. (31) | Angelika et al. (32) | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age of onset | 3 month | 6 month | 6 year-old | 6 month | 2 month | 5 month | 5 year-old | 10 month | Infancy | Infancy | ND | ND | ND | ND | Infancy | 8 year-old | 3 month | 3 month | 6 month | 3 month | Infancy | 4 month | 2d | Infancy | Infancy | Infancy | 5 month | 16 month | 3 years | |||||
| Motor development retardation | + | + | + | + | + | + | + | + | + | + | – | + | + | + | + | – | + | + | + | + | + | + | + | + | + | + | + | + | + | |||||
| Intellectual disability | + | + | + | + | + | + | + | + | + | + | – | + | + | + | + | + | + | + | + | ND | + | + | + | + | + | + | + | + | + | |||||
| Hypotonia | + | + | + | ND | + | + | + | – | – | + | – | ND | ND | ND | + | – | + | ND | + | ND | + | + | – | + | + | + | + | + | + | |||||
| Ptosis | + | + | + | – | – | – | – | – | – | + | – | + | + | + | + | – | + | – | – | + | + | + | – | – | – | + | + | + | – | |||||
| Long philtrum | + | + | – | – | + | + | + | – | + | – | – | – | – | – | + | – | – | – | + | + | + | – | – | – | + | + | + | + | + | |||||
| Wide nose | + | ND | + | – | + | + | – | – | – | + | – | – | – | – | + | – | – | + | + | + | + | + | + | – | + | + | + | + | + | |||||
| Micrognathia | + | ND | – | – | – | + | – | – | + | – | – | + | + | + | – | – | – | + | – | + | + | + | + | – | + | + | + | + | – | |||||
| hearing abnormality | – | ND | – | – | – | + | – | – | + | ND | – | – | – | – | – | – | – | ND | ND | ND | – | + | ND | + | ND | ND | ND | – | – | |||||
| congenital heart disease | + | + | – | ND | – | – | – | ND | – | + | – | + | – | – | + | – | + | ND | – | ND | – | + | + | + | + | – | ND | – | – | |||||
| Gastrointestinal abnormalities | – | – | – | ND | + | ND | – | ND | ND | – | – | – | – | – | – | – | + | ND | – | ND | + | – | – | – | + | ND | ND | ND | – | |||||
| Gene deletion | 3p26.3–p25.3 about 10.095Mb deleted (Containing BRPF1) | 3p25.3 about 10Mb deleted | 3p26.2–3p26.3 | deleted (Containing CNTN4) | 3p26.2–3pter | About 4Mb deleted (Containing CHL1, CNTN4 and CRBN) | 3p25.2 Large segment deleted (Containing SLC6A11) | 3p25.3p26.3 about 10Mb deleted (Containing CHL1, ATP2B2) | 3p25.3 about 8.99Mb deleted | 3p26 about 1.1Mb deleted (Containing CHL1) | 3p26.2 about 4.5Mb deleted (Containing CNTN4) | 3p25.3–pter about 8.727 Mb deleted | 3p26.1–pter about 8.60 deleted | 3p25.3–pter about 11.50Mb deleted (Containing FANCD2, VHL, IRAK2, GHRL) | 3p25.3–p26.1 about 6.30Mb deleted (Containing FANCD2, VHL, IRAK2, GHRL) | 3p25.3–pter about 10.90Mb deleted (Containing FANCD2, VHL, IRAK2, GHRL) | 3p25.3–p26.1 about 1.6Mb deleted (Containing CAV3, OXTR and SRGAP3/MEGAP) | 3p26.3 about 555.4 Kb deleted (Containing CHL1) | 3p25.3 about 643kb deleted (Containing THUMP3, SETD5, LHFPL4, MTMR14, CPNE9, BRPF1, OGG1, CAMK1, TADA3, ARPC4, TTLL3 and RPUSD3) | 3p25–p26.34 deleted (Maybe containing CHL) | 3p25.3 about 684kb deleted (Containing SETD5, THUMPD3 and LOC440944) | 3p23–p26 deleted | 3p26.3–25.3 about 11.0Mb deleted | (Containing VHL) | 3pterp25.3 about 9.918 Mb deleted | 3p26.1pter about 4.190 Mb deleted | 3p26.3–pter about 2.16Mb Microdeletions (containing 7 pathogenic genes) | 3p25 about | 3327 kb deleted (Containing SETD5, | VHL and FANCD2) | 3p25–pter deleted | 3p25–3pter deleted | 3p25–p26 about 4.5Mb deleted | 3p 26.1–p 25.3about 1.24Mb deleted (Containing LOC100288428,LMCD1, LINC00312, C3orf32, CAV3, OXTR, RAD18, SRGAP3,THUMPD3, LOC440944, SETD5) |
| Prognosis | Survival | Survival | Survival | Survival | Survival | Survival | Survival | Survival | Survival | Survival | Survival | Survival | Survival | Survival | Survival | Survival | Dead | Dead | Survival | Survival | Survival | Survival | Dead | Survival | Survival | Dead | Survival | Survival | Survival | |||||
+, yes; –, no; ND, undescribed.