Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements.\nA variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the\ngenetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation\nprobe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize\nrearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed\nwith a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6Mb duplication is\nreported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in\nthe literature.
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