Microdeletions/duplications involvingTBX1gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescencein-situhybridization
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 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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Fetal diffusion MR imaging was performed in 3 fetuses with CHD. ADC values in the periatrial WM, thalamus, and basal ganglia were compared with those in a control population of fetuses. Diffusivity in the periatrial WM and thalamus was higher for the fetuses with CHD compared with controls. These observations support the finding of abnormal in utero brain development in fetuses with CHD.
متن کاملPrenatally detectable congenital heart defects in fetuses with Down syndrome.
OBJECTIVE To document the incidence of congenital heart defects (CHD) that are detectable echocardiographically in the fetus with trisomy 21 and the relationship with nuchal translucency, fetal sex and ethnicity. METHODS Data on fetuses with a karyotypic diagnosis of trisomy 21 were collected between January 2002 and March 2010. The data were analyzed for the gestational age at examination, m...
متن کاملConotruncal Heart Defects: Altered Tissue Morphology and Hemodynamics
1 Biomedical Engineering Program, College of Engineering and Computing, University of South Carolina, Columbia, SC 29208, USA 2 Department of Cell Biology and Anatomy, University of South Carolina School of Medicine, Columbia, SC 29209, USA 3 Department of Pediatrics (Neonatology), Neonatal-Perinatal Research Institute, Duke University Medical Center, Durham, NC 297710, USA 4 Department of Cell...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2013
ISSN: 0960-7692
DOI: 10.1002/uog.12550