RUO - TBX1 / SHANK3
The 22q11 deletion in DiGeorge syndrome/VCFS is characterized by defects in the derivatives of the pharyngeal apparatus. TBX1, a member of the T-box transcription factor family, is required for normal development of the pharyngeal arch arteries. Haploinsufficiency of TBX1 has been demonstrated to be sufficient to generate at least one important component of the DiGeorge syndrome phenotype in mice. The TBX1 is also located within the minimal critical DiGeorge region in humans. The DiGeorge TBX1 region probe is optimized to detect copy numbers of the TBX1 gene region at 22q11.2. The subtelomeric (ST) 22qter FISH probe is included as control probe. The SHANK3 FISH probe at 22q13 is serving as internal control.
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