PMC5359231_01
PMC5359231_02
PMC5359231_03
PMC5359231_04
(A) Array CGH profile of chromosome 22. Array CGH of the proband showing chromosome 22 on the left and the 22q11.2 deletion highlighted on the right. (B) Array CGH profile of chromosome 2. Array CGH of the proband showing chromosome 2 on the left and the 2q37 duplication highlighted on the right.
fped-05-00048-g001.jpg
PMC5359231_04_fped-05-00048-g001.jpg
F1
Array CGH detected in the proband a de novo ~2.6 Mb deletion in 22q11.2, from position 18,894,835 to position 21,464,119 (hg19 map) and an additional 172 kb duplication in 2q37.1, from position 234,191,549 to position 234,363,450 (Figures 1A,B).
Interactions between DGKD and the genes located in 22q11.2, as shown by GENEMania. DGKD shows a co-expression with seven genes in 22q11.2 (PRODH, HIRA, GNB1L, C22orf29, ARVCF, MED15, and LZTR1) (pink lines) and functionally interacts with GNB1L (green line).
fped-05-00048-g002.jpg
PMC5359231_04_fped-05-00048-g002.jpg
F2