Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects
نویسندگان
چکیده
منابع مشابه
Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects
Despite considerable advances in the detection of genomic abnormalities in congenital heart disease (CHD), the etiology of CHD remains largely unknown. CHD is the most common birth defect and is a major cause of infant morbidity and mortality, and conotruncal defects constitute 20% of all CHD cases. We used array comparative genomic hybridization (array-CGH) to retrospectively study 60 subjects...
متن کاملIdentification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects.
GATA binding protein 6 (GATA6) encodes a zinc‑finger transcription factor that is essential for normal heart development. Mutations in this gene lead to conotruncal heart defects associated with cyanotic congenital heart disease; however, it remains unclear whether the mutations in GATA6 are also responsible for the development of the nonsyndromic conotruncal heart defects. The coding region exo...
متن کاملChromosome 10p13-14 and 22q11 deletion screening in 100 patients with isolated and syndromic conotruncal heart defects.
Heart defects are among the most common congenital anomalies, occurring in approximately 1% of newborn populations. Conotruncal heart defects (CTHD), which account for 50-60% of all congenital heart malformations, are known to have a strong genetic component. They occur either as an isolated malformation or in association with extracardiac anomalies. In particular, CTHD constitute a cardinal co...
متن کاملConotruncal Heart Defects: Altered Tissue Morphology and Hemodynamics
1 Biomedical Engineering Program, College of Engineering and Computing, University of South Carolina, Columbia, SC 29208, USA 2 Department of Cell Biology and Anatomy, University of South Carolina School of Medicine, Columbia, SC 29209, USA 3 Department of Pediatrics (Neonatology), Neonatal-Perinatal Research Institute, Duke University Medical Center, Durham, NC 297710, USA 4 Department of Cell...
متن کاملCNV Analysis Using Multiplex Ligation-Dependent Probe Amplification in Iranian Families with Non-Syndromic Congenital Heart Defects: Early Diagnosis of Non-Syndromic Patients
Background and Aims: Congenital heart defects (CHD) are the most common type of congenital disability. Copy number variations (CNVs) have been found as one of the genetic etiology of non-syndromic CHD, and researchers have detected several pathogenic CNVs in patients with cardiac defects. Materials and Methods: In the present study, 70 patients with familial (20 patients) and sporadic (50 pati...
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ژورنال
عنوان ژورنال: BioMed Research International
سال: 2015
ISSN: 2314-6133,2314-6141
DOI: 10.1155/2015/401941