PMC6707040_01
PMC6707040_02
Face (A) and side (B) of the patient 1 at 8 years old; Face (C) and side (D) of the patient 2 at 5 years old.
fimmu-10-01871-g0001.jpg
PMC6707040_04_fimmu-10-01871-g0001.jpg
F1
PMC6707040_03
PMC6707040_04
Face (A) and side (B) of the patient 1 at 8 years old; Face (C) and side (D) of the patient 2 at 5 years old.
fimmu-10-01871-g0001.jpg
PMC6707040_04_fimmu-10-01871-g0001.jpg
F1
(A) Deleted region of the chromosome 7 in patients 1 and 2. The deletion (thick black line) in patient 1 overlaps by 85% the deletion described in the decipher patient n 1,480 (several decipher patients with high overlap in gray line). The Agilent aCGH probes are shown. SDK1 is truncated by the deletion (chromosomic break point), and all OMIM genes are lost in the deletion. The gene of interest are in black. (B) Deleted region of the chromosome 15 in patient 1 and 2. Different OMIM and RefSeq Genes are listed. The deletion (thick black line) does not affect the PW and AS sites.
fimmu-10-01871-g0002.jpg
PMC6707040_04_fimmu-10-01871-g0002.jpg
F2
These copy number variants (CNVs) result from an imbalance of a maternal translocation involving chromosome 7 and 15 with loss of the derivative of chromosome 15 (Figure 2).