DiGeorge/VCFS N25 (D22S75) Region Probe and 22q13.3 Deletion Syndrome Probe

N25 (D22S75): Red Fluorophore
22q Subtelomere Specific Probe (clone n85a3): Green Fluorophore

The DiGeorge/VCFS N25 Region probe locates within the DiGeorge VCFS minimal critical region at D22S75. It is approximately 90 Kb incorporating the CTP gene and possibly the CLTD gene. It is labelled with a red fluorophore (Texas Red spectrum) and it may be used to identify deletions of band 22q11.2 found in DiGeorge and associated syndromes. It is accompanied by the subtelomere specific probe at 22qter (clone n85a3) labelled with a green fluorophore (FITC spectrum).

The 22q subtelomere specific probe (clone n85a3) can be used to detect deletions involved in the 22q13.3 Deletion Syndrome. The clone n85a3 contains the ProSAP2/SHANK3 gene, coding for a structural protein of the postsynaptic density of excitation synapses and expressed in the cortex and cerebellum. This gene is proposed to be a good candidate gene for the 22q13.3 Deletion Syndrome.