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 |