Reference | Chia [8] | Rasmussen [9] | Kennerknecht [10] | Verschuuren-Bemelmans [11] | Concolino [12] | Villa [13] | De Brasi [14] | Emberger [15] | Morava [16] | Polityko [17] | Cocce [18] | Percesepe [19] | Kulikowski [20] | Shin [21] | Our study | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1q trisomic segment | q42-qtera | q41- qterb | q42-qterc | q41-qterd | q42-qtere | q42-qterf | q42.1-qterg | q42.1-qterh | q44-qteri | q42-q44j | q41-qterk | q43 | q41-q44l | q42-q43 | q42-qterm | q41-qtern | q41-qtero | q41-qterp |
Monosomic region | 22 p12-pter | 10 q26-qter | 13 q34-qter | 4 q34-qter | 4 q35-qter | 15 qter | 15p11.1-pter | 8 p23.3-pter | 1 p12-pter | none | 8 p23.3-pter | none | none | none | 9 q34.3-qter | 13 p12-pter | 11 p15.5-pter | 3 p26.3-pter |
Cytogenetic analysis | K | K | K | K | K | K | K, FISH | K, FISH | K, FISH, PMM | K, FISH | K, FISH | K, FISH | K, FISH, MCB | K,FISH | K, FISH, aCGH | K, FISH | K, FISH, aCGH | K, FISH, HDMA |
Origin | mat | pat | mat | pat | mat | pat | pat | de novo | mat | de novo | de novo | de novo | NR | de novo | de novo | de novo | mat | mat |
Gender | M | F | F | M | M | M | F/M | F | F | F | F | M | F | F | M | M | M | M |
Age | At birth | 1 m | 21 m | 2y | 7y 5 m | 5y 1 m | 22y/21y | 6 m | 5y | 2y 3 m | 11y | 5y | 1y 8 m | 4y 9 m | 1y | 11y | 6 m | 2y 8 m |
PGD | NA | - | + | + | - | + | 2/2 | - | - | - | + | + | + | + | NR | - | + | + |
Macrocephaly | + | + | -q | + | + | -q | 2/2 | + | + | + | + | + | -q | + | + | + | + | - |
Wide fontanelles | + | + | - | + | + | + | +/- | + | - | + | + | NR | NR | NR | + | NR | - | - |
CNSA | - | VD, CA | VD,CA | VD | - | - | -/WCM | NR | - | VD | NR | NR | VD | NR | VD | - | NR | VD,SAC |
Triangular face | - | - | + | + | - | + | 2/2 | + | - | + | - | + | NR | + | + | + | + | + |
Frontal bossing | + | + | + | + | + | + | 2/2 | + | + | + | + | + | NR | + | + | + | + | + |
T, DS eye brows | + | - | - | + | - | - | 2/2 | - | - | - | - | NR | + | - | + | - | - | + |
DSPF | - | + | + | - | + | - | 2/2 | + | - | + | + | NR | + | - | + | + | - | - |
Ptosis | - | - | + | - | + | - | 0/2 | - | - | - | - | NR | - | - | + | - | NR | + |
Hypertelorism | - | - | + | - | + | - | 0/2 | - | + | - | - | + | + | + | NR | + | NR | + |
OEA | NR | + | - | - | + | - | 0/2 | NR | - | + | - | NR | - | - | + | - | NR | + |
Broad nasal bridge | + | - | - | + | - | - | 0/2 | - | - | + | + | NR | - | - | + | - | + | + |
Hypoplasic nostrils | - | - | - | + | + | - | 0/2 | - | - | - | - | NR | + | - | - | + | - | - |
Long Filtrum | + | + | - | + | + | - | 0/2 | + | - | - | - | + | - | + | + | - | - | + |
High palate | NR | + | + | + | BU | NR | +/- | NR | - | + | - | NR | + | NR | NR | + | NR | + |
Micro/retrognathia | + | + | + | + | NR | + | 2/2 | + | - | + | + | NR | NR | + | + | + | + | + |
Dysmorphic ears | + | + | - | + | + | NR | 0/2 | - | - | - | - | NR | + | + | + | + | + | + |
CHD | + | - | - | + | - | - | +/- | - | + | + | - | + | + | - | + | - | - | - |
GTA | - | NR | NR | + | - | - | -/+ | - | + | - | - | NR | NR | - | + | - | - | - |
Limb abnormalities | - | - | + | + | + | + | +/- | - | - | + | + | NR | + | + | + | + | NR | + |
CH | + | + | - | + | - | - | 0/2 | + | - | - | - | NR | NR | NR | NR | NR | - | - |
PD/MR | NA | + | + | + | + | + | 2/2 | + | - | + | + | + | + | + | + | + | + | + |
Abnormal Language | NA | + | NR | + | + | NR | NR | NA | NR | + | - | NR | + | NR | NR | + | NR | + |