Investigation ofTBX1gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects: Table 1
نویسندگان
چکیده
منابع مشابه
Guidelines for 22q11 deletion screening of patients with conotruncal defects.
Goldmuntz et al. (1) have reported the frequency of 22q11 deletions in a prospectively ascertained sample of 251 patients with conotruncal defects. Deletions were found in 17.9% of the patients, including 50% with interrupted aortic arch (IAA), 34.3% with truncus arteriosus (TA), and 15.9% with tetralogy of Fallot (TOF). Although this study was designed to determine the frequency of deletions i...
متن کامل22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype.
BACKGROUND The 22q11.2 deletion syndrome is the most frequent human microdeletion syndrome. The phenotype is highly variable, being characterized by conotruncal heart defect, facial dysmorphisms, velopharyngeal insufficiency, learning difficulties and mental retardation. OBJECTIVE The objective of this study was to investigate the frequency of deletion 22q11.2 in a Brazilian sample of individ...
متن کاملInvestigation of Copy Number Variation in Children with Conotruncal Heart Defects
BACKGROUND Congenital heart defects (CHD) are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations. OBJECTIVES Investigate gene copy number variation (CNV) in children with conotruncal heart defect. METHODS Multiplex li...
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BACKGROUND Pearson syndrome (PS) is a rare multisystem mitochondrial disorder of hematopoietic system, characterized by refractory sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and variable neurologic, hepatic, renal, and endocrine failure. CASE PRESENTATION We describe a six-month-old female infant with Pearson marrow syndrome who presented with neurological manifest...
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...
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ژورنال
عنوان ژورنال: Heart Asia
سال: 2013
ISSN: 1759-1104
DOI: 10.1136/heartasia-2013-010327