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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