Artículo

Genetic analysis algorithm for the study of patients with multiple congenital anomalies and isolated congenital heart disease

Delea, Marisol; Massara, Lucía; Espeche, Lucía; Bidondo, María; Barbero, Pablo Miguel; Oliveri, Jaen Natalia; Brun, Paloma Laura; Fabro, Mónica; Galain, Micaela; Fernández, Cecilia; Taboas, Melisa IvanaIcon ; Bruque, Carlos DavidIcon ; Kolomenski, Jorge EmilioIcon ; Izquierdo, AgustinIcon ; Berenstein, Ariel JoséIcon ; Cosentino, Viviana Raquel; Martinoli, María; Vilas, Mariana; Rittler, Mónica; Mendez, Rodrigo; Furforo, Lilian; Liascovich, RosaIcon ; Groisman, BorisIcon ; Rozental, Sandra; Dain, Liliana BeatrizIcon
Fecha de publicación: 11/2020
Editorial: Multidisciplinary Digital Publishing Institute
Revista: Proceedings
e-ISSN: 2504-3900
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:

Resumen

Abstract: In this work, we aim to identify the genetic causes of pathogenesis in Argentinean patientswith multiple congenital anomalies (MCA) and isolated Congenital Heart Disease (iCHD). We recruited174 MCA and 194 iCHD patients from 15 public hospitals. Karyotyping was performed forMCA patients, and MLPA for conotruncal CHD or suspected 2q11 Deletion Syndrome (22q11DS).Selected samples were analyzed by array-CGH (Comparative genomic hybridization) (n = 89)and/or Next-Generation Sequencing (NGS) (n = 18). We successfully analyzed 252/368 patients: 14had cytogenetic abnormalities, 27 had imbalances in 22q11, and 16 had other clinically relevant copynumber variations (CNVs). NGS revealed 12 relevant nucleotide variants (five novels). Combiningmolecular, clinical and genetic evaluations, the diagnostic yield was 26.2%.
Palabras clave: CONGENITAL ANOMALIES , MULTIPLE CONGENITAL ANOMALIES , CONGENITAL HEART DISEASE , CHROMOSOMAL ABNORMALITIES , ARRAY-CGH , NEXT GENERATION SEQUENCING
 
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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution 2.5 Unported (CC BY 2.5)
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URI: http://hdl.handle.net/11336/172570
URL: https://www.mdpi.com/2504-3900/76/1/8
DOI: https://doi.org/10.3390/IECGE-07151
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Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Citación
Delea, Marisol; Massara, Lucía; Espeche, Lucía; Bidondo, María; Barbero, Pablo Miguel; et al.; Genetic analysis algorithm for the study of patients with multiple congenital anomalies and isolated congenital heart disease; Multidisciplinary Digital Publishing Institute; Proceedings; 76; 1; 11-2020; 1-7
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