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Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort.
Streața, Ioana; Caramizaru, Alexandru; Riza, Anca-Lelia; Șerban-Sosoi, Simona; Pîrvu, Andrei; Cara, Monica-Laura; Cucu, Mihai-Gabriel; Dobrescu, Amelia Mihaela; Shelby, Elena-Silvia; Albeanu, Adriana; Burada, Florin; Ioana, Mihai.
Afiliação
  • Streața I; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.
  • Caramizaru A; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
  • Riza AL; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
  • Șerban-Sosoi S; Doctoral School, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.
  • Pîrvu A; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.
  • Cara ML; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
  • Cucu MG; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.
  • Dobrescu AM; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
  • Ro-Nmca-Id Group; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.
  • CExBR Pediatric Neurology Obregia Group; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
  • CExBR Pediatric Neurology V Gomoiu Hospital Group; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.
  • Shelby ES; Department of Public Health, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
  • Albeanu A; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.
  • Burada F; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
  • Ioana M; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.
Diagnostics (Basel) ; 12(12)2022 Dec 12.
Article em En | MEDLINE | ID: mdl-36553144
ABSTRACT
The investigation of unexplained global developmental delay (GDD)/intellectual disability (ID) is challenging. In low resource settings, patients may not follow a standardized diagnostic process that makes use of the benefits of advanced technologies. Our study aims to explore the contribution of chromosome microarray analysis (CMA) in identifying the genetic etiology of GDD/ID. A total of 371 Romanian patients with syndromic or non-syndromic GDD/ID, without epilepsy, were routinely evaluated in tertiary clinics. A total of 234 males (63.07%) and 137 (36.93%) females, with ages ranging from 6 months to 40 years (median age of 5.5 years), were referred for genetic diagnosis between 2015 and 2022; testing options included CMA and/or karyotyping. Agilent Technologies and Oxford Gene Technology CMA workflows were used. Pathogenic/likely pathogenic copy number variations (pCNVs) were identified in 79 patients (21.29%). Diagnosis yield was comparable between mild ID (17.05%, 22/129) and moderate/severe ID 23.55% (57/242). Higher rates were found in cases where facial dysmorphism (22.97%, 71/309), autism spectrum disorder (ASD) (19.11%, 26/136) and finger anomalies (20%, 27/96) were associated with GDD/ID. GDD/ID plus multiple congenital anomalies (MCA) account for the highest detection rates at 27.42% (17/62). pCNVs represent a significant proportion of the genetic causes of GDD/ID. Our study confirms the utility of CMA in assessing GDD/ID with an uncertain etiology, especially in patients with associated comorbidities.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article