Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
نویسندگان
چکیده
منابع مشابه
Microdeletions 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 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 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 کاملDetection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects.
Chromosomal abnormalities and the 22q11 microdeletion are implicated in congenital heart defects (CHDs). This study was designed to detect these abnormalities in fetuses and determine the effect of genetic factors on CHD etiology. Between January 2010 and December 2011, 113 fetuses with CHD treated at the Beijing Obstetrics and Gynecology Hospital were investigated, using chromosome karyotyping...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1993
ISSN: 1468-6244
DOI: 10.1136/jmg.30.10.807