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. Author manuscript; available in PMC: 2019 Nov 1.
Published in final edited form as: J Pediatr. 2018 Aug 29;202:206–211.e2. doi: 10.1016/j.jpeds.2018.07.022

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)