Abstract
Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation probe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize rearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed with a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6 Mb duplication is reported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature.
Highlights
Rearrangements in 22q11.2 region result in different syndromes including 22q11.2 Cat-eye syndrome, microdeletion syndrome (OMIM#192430), and microduplication syndrome
The 22q11.2 microdeletion syndrome is characterized by the deletions of 22q11.2 which leads to a variety of phenotypes including velocardiofacial syndrome (VCFS, MIM 192430), DiGeorge syndrome (DGS, MIM 188400), and conotruncal anomaly face syndrome [1]. 22q11.2 microduplication syndrome results from reciprocal duplications in the region and individuals with this rearrangement have a wide range of phenotypes or may be without any symptom [2]
Deletion and duplication are the result of nonallelic homologous recombination (NAHR) mechanism mediated by eight low-copy number repeats (LCRs) identified on 22q11.2 region
Summary
Rearrangements in 22q11.2 region result in different syndromes including 22q11.2 Cat-eye syndrome, microdeletion syndrome (OMIM#192430), and microduplication syndrome. 22q11.2 microduplication syndrome results from reciprocal duplications in the region and individuals with this rearrangement have a wide range of phenotypes or may be without any symptom [2]. Deletion and duplication are the result of nonallelic homologous recombination (NAHR) mechanism mediated by eight low-copy number repeats (LCRs) identified on 22q11.2 region. The. Genetics Research International size of the duplicated region depends on the chromosomal location of the LCRs involved in rearrangement [2]. The present study was conducted to evaluate the clinical signs of individuals with 22q11.2 duplication who were detected during assessing patients with cleft lip and/or palate by multiplex ligation-dependent probe amplification (MLPA) test. An elaborated description of the symptoms of the patients with this syndrome might help genetic counselors and pediatricians in providing better diagnosis of these patients
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