Table 1.
8p21.3→ p23.3 Duplication syndrome (in chronological order of the reports).
|
Region with duplication |
Size Mb |
Type of duplication |
±Translocation | Pattern | Abnormality | References |
|---|---|---|---|---|---|---|
| 8p21.3→ p23.3 | Unknown | Duplication | der(12), t(8;12)(p12;pl3) |
Familial 3 cases |
MR, simian crease, CHD (atrial septal defect, ventricular septal defect) | (13) |
| 8p12→ 8p21.1 | Unknown | Direct duplication | No | Familial (3 cases) |
mild MR | (6) |
| 8p21.3→ 23.1 | Unknown | Direct duplication in 7 cases | No | Familial (6 cases) sporadic (1 case) |
Normal to moderate MR in the affected individuals, ADHD (1 case), CHD (2 cases including 1 prenatal) | (5) |
| 8p21→ p23 | Unknown | Duplication | No | De novo | ASD, mild dysmorphic features, and moderate learning disability, MR | (14) |
| 8p23.1 | 3.75 Mb | Duplication | No | Sporadic | prominent forehead, mildly arched eyebrows, slightly upward slanting palpebral fissures | (15) |
| 8p21→ 8p23.1 | 12 Mb | Direct duplication 8p + deletion 8p23.1 | Rearrangement 8p with der(8)dirdup(8)(p21p23.1) del(8)(p23.1pter) |
De novo | global developmental delays, seizures, Dandy–Walker variant |
(10) |
| 8p23.1→ 8p23.2 | 6.8 Mb | Duplication | No | Maternal | Child: speech delay, ASD, mother: epilepsy and learning problems |
(16) |
| 8p21 | 6.14 Mb | Duplication | no | De novo | Cognitive and motor development severely MR, facial dysmorphic features, ASD, self-mutilation | (17) |
| 8p23.1. | Minimum 3.79 Mb | Interstitial duplication | no | 4 cases including 2 familial (maternal) | CHD (aortic stenosis) prominent forehead |
(18) |
| Maximum 5.26 Mb | Terminal duplication | |||||
| 6.83 Mb | Terminal duplication | der(8)t(8;15)(p22;q24.1) | 1 case | Prominent forehead CHD (aortic dilatation) |
||
| 8p23.1. | 1.8 Mb | Interstitial duplication |
no | Familial | Delay of motor and speech development, MR, ASD. | (19) |
| 8p23.1. | 3.68 Mb | Duplications | no | Familial | Developmental delay, dysmorphism including a prominent forehead and arched eyebrows., macrocephaly and, but not CHD | (20) |
| 8p21.3→ p23.3 | Unknown | Duplication | der(16), t(8;16)(p21;q24) |
Maternal | CHD (transverse aortic arch hypoplasia) | (21) |
| 8p21.3→ p23.3 | 22.3 Mb | 8p terminal duplication | der(4),t(4;8)(q35;p21.3) | De novo | Proeminent forehead, mild MR, ASD, ADHD, noncyanotic CHD (ventricular septal defect) | Present case, 2020 |
ADHD, Attention Deficit Hyperactivity Disorder; ASD, Autism Spectrum Disorder; CHD, congenital heart defect; der, derivative; Mb, megabase; MR, mental retardation; t, translocation.