Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience |
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| Authors: | Alexander Yu Donald Turbiville Fangling Xu Joseph W Ray Allison D Britt Pamela J Lupo Sunil K Jain Karen E Shattuck Sally S Robinson Jianli Dong |
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| Institution: | 1. School of Medicine, University of Texas Medical Branch, Galveston, Texas;2. Department of Pathology, University of Texas Medical Branch, Galveston, Texas;3. Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas;4. https://orcid.org/0000-0001-8929-6132;5. Jianli Dong, Department of Pathology, University of Texas Medical Branch, 301 University Boulevard, Galveston, TX 77555‐0743. |
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| Abstract: | Duplications in the 22q11.2 region can cause 22q11.2 duplication syndrome and encompass a variety of phenotypes including developmental delays, facial abnormalities, cardiovascular defects, central nervous system delays, and other congenital abnormalities. However, the contribution of these contiguous duplicated regions to the clinical phenotypes has not been fully elucidated. In this study, we identified nine patients carrying different 22q11.2 microduplications detected by chromosomal microarray. Of these patients, seven pediatric patients presented with various clinical features including two neonate cases died shortly after birth, and two healthy adults. We examined region specific genotype–phenotype associations and found unpredictability associated with 22q11.2 duplications in these nine patients. |
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| Keywords: | chromosome 22q11 2 chromosome microarray genotype– phenotype correlation microduplication |
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