1. Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability
- Author
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Ana-Maria Ivankov, Mijana Kero, Adriana Bobinec, Ivona Sansović, and Ingeborg Barišić
- Subjects
Adult ,Male ,0301 basic medicine ,Pathology ,medicine.medical_specialty ,Forensic Science ,Adolescent ,DNA Copy Number Variations ,Microarray ,Developmental Disabilities ,Bioinformatics ,Congenital Abnormalities ,Young Adult ,03 medical and health sciences ,Chromosomal microarray ,congenital anomalies ,developmental delays ,intellectual disability ,Intellectual Disability ,Intellectual disability ,Humans ,Medicine ,Clinical significance ,Copy-number variation ,Young adult ,Child ,Oligonucleotide Array Sequence Analysis ,business.industry ,Infant ,General Medicine ,medicine.disease ,030104 developmental biology ,Child, Preschool ,Clinical diagnosis ,Autism ,Female ,Human genome ,business - Abstract
Aim: To determine the diagnostic yield and criteria that could help to classify and interpret the copy number variations (CNVs) detected by chromosomal microarray (CMA) technique in patients with congenital and developmental abnormalities including dysmorphia, developmental delay (DD) or intellectual disability (ID), autism spectrum disorders (ASD) and congenital anomalies (CA). Method: CMA analysis was performed in 337 patients with DD/ID with or without dysmorphism, ASD, and/or CA. In 30 of 337 patients, chromosomal imbalances had previously been detected by classical cytogenetic and molecular cytogenetic methods. Results: In 73 of 337 patients, clinically relevant variants were detected and better characterized. Most of them were >1 Mb. Variants of unknown clinical significance (VOUS) were discovered in 35 patients. The most common VOUS size category was
- Published
- 2017