Table 2

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.

Xu et al. BMC Medical Genetics 2011 12:169   doi:10.1186/1471-2350-12-169

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