Table 3; online only:
Summary of copy number variation for subjects with HLHS hosting abnormal/pathogenic CNVs
CMA Pathologic Variants | |||
---|---|---|---|
Subject | CNV | Clinical Presentation or Syndrome | |
1 | Xp22.33q28 | Loss | Turner syndrome, renal pyelectasis, cystic kidneys bilaterally |
2 | 1p36.33p36.32 | Gain | Gastroparesis and esophageal dysmotility |
3 | Xp22.33q28 | Loss | Turner syndrome |
4 | 15q11.2, | Loss | Turner Syndrome |
Xp22.33q28, | Loss | ||
Yp11.31q11.1 | Gain | ||
5 | X, | Loss | Turner Syndrome |
Yp11.31p11.2 | Gain | ||
6 | 12p13.33p11.1 | Gain | Pallister-Killian syndrome |
7 | 18q23 | Gain | Partial Trisomy 18q and dysmorphic features |
8 | 13q13.1 | Gain | BRCA2 Duplication |
9 | 22q11.21 | Loss | Cleft lip/palate (features of DiGeorge Syndrome) |