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Table 1 Chromosomal aberrations and CNVs reported in BEEC patients

From: CNV analysis in 169 patients with bladder exstrophy-epispadias complex

BEEC phenotype

Other anomalies

Aberration/CNV

Size

Reference

CE (OEIS)

Prominent labioscrotal folds, no apparent genital tubercle, midline defect, imperforate anus, left foot anomaly

del 1p36.33

1.25 Mb

12

CE (OEIS)

Microbrachycephaly, large anterior fontanel, cardial septal defects, rib fusion, limb deformity, typical facial features, developmental delay

del 1p36

2.4 Mb

13

CE (OEIS)

Micrognathia, increased nuchal fold thickness, median clefting or soft and hard palate, low-set malformed ears, camptodactyly, hypoplastic nails

del 1q41

?

14

CBE

Agenesis of corpus callosum, congenital heart disease

del 1q

10.4 Mb

15

CBE

-

del 2p15

0.07 Mb

16

CE (OEIS)

Dysmorphic features

del 3q12.2-q13.2

13 Mb

17

CBE

Wolf-Hirschhorn syndrome

del 4p (?)

?

18

CBE

Wolf-Hirschhorn syndrome

del 4p (?)

?

19

E

-

dup 9p

?

20

CE (OEIS)

Axial hypotonia

del 9q34.1-qter

?

21

CBE

-

dup 19p13.12

0.9 Mb

22

CBE

-

dup 22q11.21

2.52–2.59 Mb

23, 25

CBE

-

dup 22q11.21

2.55–2.57 Mb

23, 25

CBE

Hearing impairment, scoliosis

dup 22q11.21

2.48–2.54 Mb

24, 25

CBE

Hearing impairment, mild neuropsychiatric disorder

dup 22q11.21

2.52–2.59 Mb

24, 25

CBE

-

dup 22q11.21

2.52–2.59 Mb

24

CBE

Short stature, delayed psychomotor development

dup 22q11.21

~2.4 Mb

26

CBE

-

dup 22q11.21

0.75–0.83 Mb

24

CBE

-

dup 22q11.21

0.69–0.77 Mb

24

CBE

-

dup 22q11.21

0.40–0.43 Mb

24

CBE

Short stature

del Xp22.12-pter +

19.95 Mb

27

dup Xq26.3-qter

20.75 Mb

 

CE (OEIS)

Secundum atrial septal defect, cyst in right medulla, tracheobronchomalacia

dup 7p15.1 +

0.34 Mb

 

dup 17q21.31-q21.32

0.64 Mb

28

CE (OEIS)

-

dup 5q21.1

0.12 Mb

 

dup 11p15.1

0.11 Mb

 

dup17q21.31-q21.32

0.13 Mb

 

dup 22q11.1

0.39 Mb

 

del Xp22.31

0.06 Mb

28

CE (OEIS)

Vascular malformation of left leg

del 4p15.31

0.14 Mb

 

del 6q21

0.05 Mb

 

dup17p13.2

0.32 Mb

 

dup 18q12.1

0.06 Mb

28

CE (OEIS)

Patent ductus arteriosus, hemiazygos vein

del 7p21.3

0.23 Mb

 

dup17q21.31-q21.32

0.23 Mb

28