Diagnosing<unk>  can be difficult in some cases because it is a rare chromosomal disorder. There are a variety of tests that can be carried out, like karyotypes, cardiac echocardiograms, a renal sonogram, a platelet count, blood counts, a brain imaging study. Genetic testing can be carried out for diagnosis. Here chromosomes are stained to give a barcode like appearance and studied under the microscope, which reveals the broken and deleted genes. The condition can also be diagnosed early in the prenatal stage if there are any abnormalities seen in the ultrasound. A simple assessment of the symptoms can be done to diagnose the syndrome. A thorough physical examination could be carried out to assess the symptoms.
Jacobsen syndrome
Senior–Løken syndrome
McGillivray syndrome
Mungan syndrome
Lelis syndrome
Sanjad-Sakati syndrome
Barakat-Perenthaler syndrome
Bart syndrome