Table 2 |
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|
Clinical manifestations of the 13 CTD patients with 22q11.2 deletion |
|||||
|
NO. |
Age* |
Size of |
Cardiac defects |
Extracaridac anomalies |
|
|
|
|||||
|
(m) |
Deletion |
P.D. |
S.D. |
||
|
|
|||||
|
T36 |
21 |
D22S75-LZTR1 |
TOF |
PFO/RAA |
Nil |
|
1E |
13 |
D22S75-LZTR1 |
TOF |
PFO/APCA |
Asymmetric cry/smile face |
|
2F |
19 |
D22S75-LZTR1 |
TOF |
PFO/RAA/APCA |
Nil |
|
33 |
24 |
D22S75-LZTR1 |
TOF |
ASD(II) |
Nil |
|
18 |
8 |
D22S75-LZTR1 |
PA/VSD |
PDA/ASD(II) |
Hypoplastic thymus |
|
1C |
4 |
D22S75-LZTR1 |
PA/VSD |
PFO/APCA |
Cleft palate |
|
32 |
23 |
D22S75-LZTR1 |
PA/VSD |
PFO/PDA/APCA |
Classic dysmorphological facial features; hypoplastic thymus |
|
1I |
15 |
D22S75-LZTR1 |
PA/VSD |
PDA |
Nil |
|
2D |
23 |
D22S75-LZTR1 |
PA/VSD |
PDA/ASD/MAPCA |
Classic dysmorphological facial features |
|
5 |
9 |
D22S75-LZTR1 |
PA/VSD |
ASD(II)/MAPCA |
inguinal hernia |
|
10D |
120 |
CDC45L-LZTR1 |
PA/VSD |
PDA/ASD/APCA |
Nil |
|
D2 |
21 |
D22S75-LZTR1 |
DORV |
VSD/PS |
Nil |
|
13 |
8 |
D22S75-DGCR8 |
PTA(A1) |
VSD |
Nil |
|
|
|||||
|
Abbreviations: * age in months at the point of examination; m = months P.D. = primary diagnosis; S.D. = secondary diagnosis; ASD (II) = secondary atrial septal defect; APCA = aortic-pulmonary collateral arteries; MAPCA = major aortic-pulmonary collateral artery; PDA = patent ductus arteriosus; PFO = Patent Foramen Ovale; RAA = right aortic arch; PS = pulmonary stenosis. |
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|
Xu et al. BMC Medical Genetics 2011 12:169 doi:10.1186/1471-2350-12-169 |
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