Skip to main content
. 2018 Jan 2;128(1):4–15. doi: 10.1172/JCI95300

Figure 3. Differences and similarities in the prevalence of the four most commonly implicated CNV loci in CAKUT patients.

Figure 3

Bar graphs compare the prevalence of common loci in CAKUT patients (n = 823) to the prevalence of identical loci in patients with developmental delay (n = 15,767), tetralogy of Fallot (n = 495), and in-house genotyping data of healthy controls (n = 21,498) (59, 69–71, 80). Genomic imbalances are enriched for all phenotypes compared with controls. Duplications are shown in green, deletions are shown in red. (A) Prevalence of duplications and deletions at chromosomal locus 1q21.1. (B) Prevalence of duplications and deletions at chromosomal locus 16p11.2. (C) Prevalence of duplications and deletions at chromosomal locus 17q12. As expected, CAKUT patients show a significant enrichment for the renal cysts and diabetes (RCAD) syndrome deletion. (D) Prevalence of duplications and deletions at chromosomal locus 22q11.2. Patients with tetralogy of Fallot are typically enriched for the 22q11.2 microdeletion syndrome.