Table 3 Patients with de novo CNVs.
Individual 12 | Individual 13 | Individual 14 | |
|---|---|---|---|
CNV | del16q12.1 | del18q32 | del22q11.21 |
Type of ARM | Perineal fistula | Rectoprostatic fistula | Perineal fistula |
Phenotypes | |||
Heart | PDA, VSD, pulmonary valve stenosis | ||
CNS | – | – | – |
Esophagus | – | – | – |
Extremities | – | – | – |
Vertebral bodies | – | – | – |
Hips | – | – | – |
Kidney | – | Duplex kidney with megaureter | – |
Urinary tract | – | – | – |
Genital organs | – | Maldescensus testis (right) | – |
Other | Auricular hypoplasia (right) | – | Luxation of the arytenoid cartilages, Abdominal wall hernia |
