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Figure 2: (a) FISH image of the patient: Interphase cell. Presence of two green signals (control ARSA probe, locus 22q13) one orange signal (TUPLE1, locus 22q11.2) denotes hemizygous deletion in the 22q11.2 region (b) FISH image of the patient: Metaphase cell, each cell has two chromatids. Presence of two pairs of green signals (control ARSA probe, locus 22q13) and only one pair of orange signals (TUPLE1 locus 22q11.2) denotes hemizygous deletion in the 22q11.2 region

Figure 2: (a) FISH image of the patient: Interphase cell. Presence of two green signals (control ARSA probe, locus 22q13) one orange signal (TUPLE1, locus 22q11.2) denotes hemizygous deletion in the 22q11.2 region (b) FISH image of the patient: Metaphase cell, each cell has two chromatids. Presence of two pairs of green signals (control ARSA probe, locus 22q13) and only one pair of orange signals (TUPLE1 locus 22q11.2) denotes hemizygous deletion in the 22q11.2 region