DiGeorge HIRA (22q11) / 22q13 (SHANK3) probe hybridized to a normal metaphase (2R2G).


The DiGeorge HIRA (TUPLE) probe targets a putative transcriptional regulator (TUPLE1 or HIRA, HIR histone cell cycle regulation defective homolog A) which also has been identified to lie within the commonly deleted region DiGeorge syndrome. This probe is located distally to the ""N25"" probe. The DiGeorge HIRA region probe is optimized to detect copy numbers of the HIRA gene region at 22q11.2. The SHANK3 probe at 22q13 is serving as internal control.

Lorain at al, 1996, Genome Res, 6; 43-50.

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