scholarly journals Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

2010 ◽  
Vol 86 (5) ◽  
pp. 749-764 ◽  
Author(s):  
David T. Miller ◽  
Margaret P. Adam ◽  
Swaroop Aradhya ◽  
Leslie G. Biesecker ◽  
Arthur R. Brothman ◽  
...  
Keyword(s):  
Developmental Disabilities ◽  
Diagnostic Test ◽  
Congenital Anomalies ◽  
Consensus Statement ◽  
Chromosomal Microarray ◽  
Clinical Diagnostic ◽  
Clinical Diagnostic Test

scholarly journals Chromosomal microarray analysis as a first‐tier clinical diagnostic test: E stonian experience

2014 ◽  
Vol 2 (2) ◽  
pp. 166-175 ◽  
Author(s):  
Olga Žilina ◽  
Rita Teek ◽  
Pille Tammur ◽  
Kati Kuuse ◽  
Maria Yakoreva ◽  
...  
Keyword(s):  
Diagnostic Test ◽  
Microarray Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Clinical Diagnostic ◽  
Clinical Diagnostic Test

scholarly journals Chromosomal microarray analysis as the first-tier clinical diagnostic test for miscarriage analysis

2018 ◽  
Vol 109 (3) ◽  
pp. e48
Author(s):  
Trilochan Sahoo ◽  
Michelle N. Strecker ◽  
Sara B. Hay ◽  
Mary K. Travis ◽  
Natasa Dzidic ◽  
...  
Keyword(s):  
Diagnostic Test ◽  
Microarray Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Clinical Diagnostic ◽  
Clinical Diagnostic Test

scholarly journals Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions

2020 ◽  
Vol 11 (4) ◽  
pp. 197-206
Author(s):  
Alper Han Çebi ◽  
Şule Altıner
Keyword(s):  
Developmental Disabilities ◽  
Microarray Analysis ◽  
Congenital Anomalies ◽  
Copy Number Variations ◽  
Step Test ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Multiple Congenital Anomalies ◽  
Single Center Experience ◽  
Genome Wide

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 <i>NRXN3</i> and <i>NEDD4L</i> 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.

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