A medical examination is recommended for newly diagnosed including echocardiogram for detection of heart defects (mainly aorta dilation), kidneys ultrasound, consider brain MRI.
7q11.23 duplication syndrome
Chromosome 5q deletion syndrome
13q deletion syndrome
22q11.2 duplication syndrome
2q37 deletion syndrome
8p23.1 duplication syndrome
22q11.2 distal deletion syndrome
22q13 deletion syndrome