Chromosomal Microarray: Application for Congenital Heart Diseases

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Chromosomal Microarray: Application for Congenital Heart Diseases

https://e-kcj.org Chromosomal microarray (CMA) is a technology used to determine if there are microduplication or microdeletion pieces of genetic information. The prefix ‘Micro-’ indicates that less than 5 Mb sized genomic regions which has not been identified by conventional karyotyping using the G-band technique. These small gains and losses are called copy number variants (CNVs). A CNV is de...

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Chromosomal abnormalities and congenital heart disease.

In this study the authors attempted to determine the frequency of the classical chromosomal syndromes as a cause of congenital heart disease and sought other cytogenetic abnormalities in patients with congenital heart disease, selected either for the presence of extracardiac abnormalities or the existence of congenital heart disease in other members of the family. Of the 275 patients whose kary...

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Congenital Heart Defects and Chromosomal Abnormality

Chromosomal abnormality is one of the causal factors in the formation of the congenital heart defects. 65 patients (33 male and 32 female) with heart defects were referred for karyotyping and counseling. Chromosomal abnormalities were detected in 27 (41.5%) and 38 had a normal karyotype. Numerical abnormality was found in 21 (77.8%) and structural in 6 (22.2%), numerical was detected in 14 fema...

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Chromosomal Abnormalities and Congenital Heart Disease

In this study the authors attempted to determine the frequency of the classical chromosomal syndromes as a cause of congenital heart disease and sought other cytogenetic abnormalities in patients with congenital heart disease, selected either for the presence of extracardiac abnormalities or the existence of congenital heart disease in other members of the family. Of the 275 patients whose kary...

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Adolescents with congenital heart diseases.

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ژورنال

عنوان ژورنال: Korean Circulation Journal

سال: 2018

ISSN: 1738-5520,1738-5555

DOI: 10.4070/kcj.2018.0032