Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions
| Autor: | Alper Han Cebi, Şule Altıner |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
NEDD4L
0303 health sciences Pediatrics medicine.medical_specialty business.industry Microarray analysis techniques 030305 genetics & heredity Chromosome Retrospective cohort study medicine.disease Single Center 03 medical and health sciences Speech delay Intellectual disability Genetics medicine Copy-number variation medicine.symptom business Genetics (clinical) 030304 developmental biology |
| Zdroj: | Molecular Syndromology. 11:197-206 |
| ISSN: | 1661-8777 1661-8769 |
| DOI: | 10.1159/000509645 |
| Popis: | Chromosomal microarray analysis (CMA) is a first step test used for the diagnosis of patients with developmental delay, intellectual disability, autistic spectrum disorder, and multiple congenital anomalies. Its widespread usage has allowed genome-wide identification of copy number variations (CNVs). In our study, we performed a retrospective study on clinical and microarray data of 237 patients with developmental disabilities and/or multiple congenital anomalies and investigated the clinical utility of CMA. Phenotype-associated CNVs were detected in 15.18% of patients. Besides, we detected submicroscopic losses on 14q24.3q31.1 in a patient with speech delay and on 18q21.31q21.32 in twin patients with seizures. Deletions of NRXN3 and NEDD4L were responsible for the phenotypes, respectively. This study showed that CMA is a powerful diagnostic tool in this patient group and expands the genotype-phenotype correlations on developmental disabilities. |
| Databáze: | OpenAIRE |
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