Table 1.
10q deletions in patients with childhood-onset JP. A summary of the studies that describe patients presenting in childhood with JP.
| Author (year) |
Onset | Juvenile Polyps U/L |
Macrocephaly | Additional abnormalities |
Mental/ Developmental retardation |
Karyotype | Further characterization |
|---|---|---|---|---|---|---|---|
| (40) Jacoby et al. (1997) | 3 years | ?/+ | No (2nd percentile, proportionate to size) | Club foot, Tricuspid insufficiency | Yes | 46,XY,del(10)(q22.3q24.1) | |
| (41) Arch et al. (1997) | 18 months | +/+ | Yes (+7 SD) | Lipoma, hemangioma, | Yes | 46,XY,del(10)(q23.2q24.1) | 5.73 Mb, confirmed by Balciuniene et al. (51) |
| (42) Zigman et al. (1997) | Not reported | ?/+ | Yes | Subcutaneous hamartomas | Yes | 46,XY,del(10)(q23.2q24.1) | 1 cM, part of an unbalanced translocation |
| Not reported | ?/+ | Not reported | ASD, VSD, club feet | Yes | 46,XX,del(10)(q23.1q24.2) | 11.6 cM | |
| (43) Tsuchiya et al. (1998) | 2 years | +/+ | Yes (>90th percentile) | Hyperpigmentation multiple areas | Yes | 46,XY,del(10)(q23.2q23.33) | 10–15 cM |
| (44) Delnatte et al. (2006) | 1 month | +/+ | Yes (+2 SD) | Lipoma, hemangioma | No | 46,XX.ish del(10)(q23.2q23.3) | 2Mb by CGH and PCR |
| 2.5 months | +/+ | Yes (+2 SD) | None reported | No | 46,XX.ish del(10)(q23.2q23.3) | 2Mb by CGH and PCR | |
| 3 months | +/+ | Yes (+2.5 SD) | Hemangioma, speckled penis | No | 46,XY.ish del(10)(q23.2q23.3) | Detected in 17% of lymphocytes | |
| 18 months | +/+ | Yes (+4 SD) | ASD VSD | No | 46,XX,t(2;10)(q31;p15) | 1.2 Mb by microsatellite typings and PCR | |
| (45) Salviati et al. (2006) | 5 years | −/+ | No | Hemangioma, ASD, café-au-lait | Yes | 46,XX,del(10)(q22.3q23.33)dn | 12.3 Mb by FISH |
| (46) Menko et al. (2008) | 2 years | +/+ | Yes (+3 SD) | Cleft palate, VSD | Yes | 46,XY.ish del(10)(q23.2q23.31) | 2.88 Mb (SNP array) |
| 18 months | +/+ | Yes (+2 SD) | Kyphosis | Yes | 46,XY.ish del(10)(q23.2q24.31) | 4.26 Mb (SNP array) | |
| 4 years | +/+ | Yes (+2 SD) | VSD | Yes | 46,XX.ish del(10)(q23.2q23.31) | 3.55 Mb (SNP array) | |
| Not reported | Yes (98th percentile) | Kyphosis | Yes | 46,XY.ish del(10)(q23.2q23.31) | 4.01 Mb (SNP array) |
(ASD: Atrial Septal Defect; CGH: Comparative Genomic Hybridization; cM: centimorgan; dn: de novo; ish: in situ hybridization; Mb: Mega-base; SD: Standard deviation; STRP: Single tandem repeat polymorphism; U/L: upper/lower GI tract; VSD: Ventricular Septal Defect.)