Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
نویسندگان
چکیده
منابع مشابه
Genetic background of congenital conotruncal heart defects--a study of 45 families.
INTRODUCTION The latest achievements in molecular diagnosis create new possibilities for evaluation of congenital abnormalities. AIM To present our preliminary experience with genetic diagnosis of congenital combined conotruncal heart defects. METHODS The analysis comprised 35 families with more than one member suffering from conotruncal heart defects (Group I) and 10 families (Group II) ha...
متن کاملMicrodeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
Congenital conotruncal cardiac defects occur with increased frequency in patients with DiGeorge syndrome (DGS). Previous studies have shown that the majority of patients with DGS or velocardiofacial syndrome (VCFS) have a microdeletion within chromosomal region 22q11. We hypothesised that patients with conotruncal defects who were not diagnosed with DGS or VCFS would also have 22q11 deletions. ...
متن کاملCongenital heart defects: trapping the genetic culprits.
More children die from congenital heart disease (CHD) each year than are diagnosed with cancer. Although CHD is the most common human birth defect, the etiology of the vast majority of CHDs remains unknown. The difficulty in elucidating the molecular and genetic bases for CHD reflects the complex nature of this and other birth defects. Most CHD occurs sporadically, but the recurrence risk in su...
متن کاملAtypical 22q11 microdeletions in Iranian patients with congenital conotruncal cardiac defects.
A highly characteristic feature of 22q11DS (22q11 Deletion Syndrome) is congenital heart disease (CHD), which occurs in approximately 75% of all patients.1 Characteristics of congenital cardio vascular defects associated with DG/VCF (DiGeorge/ Velocardiofacial syndrome) are termed tetralogy of Fallot including pulmonary atresia and ventricular septal defect (VSD) in the severest type, truncus a...
متن کاملChromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development.
OBJECTIVE Congenital cardiac defects represent the most common group of birth defects, affecting an estimated six per 1000 births. Genetic characterization of patients and families with cardiac defects has identified a number of genes required for heart development. Yet, despite the rapid pace of these advances, mutations affecting known genes still account for only a small fraction of congenit...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genes
سال: 2018
ISSN: 2073-4425
DOI: 10.3390/genes9090454