Chromosome 10p13-14 and 22q11 deletion screening in 100 patients with isolated and syndromic conotruncal heart defects
نویسندگان
چکیده
منابع مشابه
Chromosome 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 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 کاملFrequency 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 کاملScreening for 22q11 deletion syndrome among patients with congenital heart defects.
The 22q11 deletion syndrome (22q11DS), or velocardiofacial/DiGeorge syndrome, is considered to be the second most known genetic cause of congenital heart disease (CHD).1 Our aim was to evaluate the effectiveness of different screening methods for 22q11DS in patients with CHD. Our study evaluated a consecutive sample of patients with CHD hospitalized for the first time in a pediatric and cardiac...
متن کاملConotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.
The conotruncal anomaly face syndrome was described in a Japanese publication in 1976 and comprises dysmorphic facial appearance and outflow tract defects of the heart. The authors subsequently noted similarities to Shprintzen syndrome and DiGeorge syndrome. Chromosome analysis in five cases did not show a deletion at high resolution, but fluorescent in situ hybridisation using probe DO832 show...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.4.e16