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Table 1 Clinical characterization of twelve patients suspected to carry 22q11DS

From: Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome

Study subject

Age* at last evaluation

Gender†

Heart defect‡

Dysmorphological facial features

Idiopathic hypocalcaemia

Others

B01

11.6 ys

F

PDA/TR/SVC

asymmetric crying face/high arch palate/bifid uvula

Yes

 

B02

4.0 ys

M

PPS

asymmetric crying face/short nasal bridge/flat philtrum/hypertelorism

Yes

 

B03

2.5 mo

M

PDA/PPS

bilateral bizarre, low-set ears/micrognathia

nil

a, b, c

B04

4.1 ys

M

nil

nil

Yes

d

B05

1.9 ys

F

VSD/ASD

short nasal bridge/hypertelorism/thin upper lip

nil

e

B06

1.0 mo

F

ECD

cleft palate

nil

f

B07

10.4 ys

F

ASD

long, thin nose/cleft palate

nil

 

B08

3.5 mo

F

VSD

asymmetric crying face

nil

 

B09

7.5 mo

F

nil

iris coloboma

nil

 

B10

0.1 mo

F

TOF/PS

nil

nil

 

B11

0.2 mo

M

nil

short nasal bridge/hypertelorism/short palpbral fissure/post-rotated and bizarre ears/cleft palate

nil

a, g, h

B12

1.0 mo

M

nil

asymmetric crying face/high arch palate

Yes

 
  1. *ys = years; mo = months.
  2. † M = male; F = female.
  3. ‡ PDA = patent ductus arteriosus; TR = tricuspid regurgitation; SVC = superior vena cava; PPS = peripheral pulmonic stenosis; VSD = ventricular septum defect; ASD = atrial septal defect; ECD = endocardial cushion defect; TOF = tetralogy of Fallot; PS = pulmonic stenosis.
  4. a, small penis with hypoplasia of scrotum; b, choanal atresia; c, trocheo-esophageal fistula; d, hypoplastic kidney; e, clinodactyly; f, left hand polydactyly; g, bilateral hand simian crease; h, esophageal atresia.