Research Article

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication

Figure 2

Multiplex ligation probe dependent amplification (MLPA) plots of our patients with clinical features of 22q11.2 duplication syndrome. Red spots show the duplication of probes located in 22q11.2 region. (a) Duplication of probes from GNAZ to RAB36 in Case 1 corresponding to distal duplication of TDR. (b) Duplication of probes from CLTC1 to LZTR1 in Cases 2 and 3 corresponding to reciprocal duplication of typically deleted region (TDR).
(a)
(b)