Frequency of 22q11 deletions in patients with conotruncal defects
نویسندگان
چکیده
منابع مشابه
Frequency of 22q11 deletions in patients with conotruncal defects.
OBJECTIVES This study was designed to determine the frequency of 22q11 deletions in a large, prospectively ascertained sample of patients with conotruncal defects and to evaluate the deletion frequency when additional cardiac findings are also considered. BACKGROUND Chromosome 22q11 deletions are present in the majority of patients with DiGeorge, velocardiofacial and conotruncal anomaly face ...
متن کاملGuidelines 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 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 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 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: Journal of the American College of Cardiology
سال: 1998
ISSN: 0735-1097
DOI: 10.1016/s0735-1097(98)00259-9