نتایج جستجو برای: conotruncal defects
تعداد نتایج: 134160 فیلتر نتایج به سال:
Derivative 22 [der(22)] syndrome is a rare disorder associated with multiple congenital anomalies including pre-auricular skin tags or pits, conotruncal heart defects, and profound mental retardation. Der(22)t(11;22) is one of the causes of supernumerary chromosome markers (mar) in humans. We present a boy with developmental delay and multiple anomalies consistent with the supernumerary der(22)...
As part of a large-scale noninvasive fetal ultrasound screen to recover ethylnitrosourea (ENU)-induced mutations causing congenital heart defects in mice, we established a high-throughput ultrasound scanning strategy for interrogating fetal mice in utero utilizing three orthogonal imaging planes defined by the fetus' vertebral column and body axes, structures readily seen by ultrasound. This co...
The 22q11.2 microdeletion syndrome is one of the common microdeletion syndromes seen among children with Congenital Heart Defects. Population based studies have shown the prevalence of 22q11.2 microdeletion syndrome range from 1 in 4000 to 1 in 6000 live births.1,2 Over 80% of children with 22q11.2 microdeletion syndrome have Congenital Heart Defects.1,3,4 Diagnosis of 22q11.2 microdeletion syn...
Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence.
OBJECTIVE Conotruncal cardiac anomalies frequently occur in patients with DiGeorge or velocardiofacial syndrome. Additionally, these patients may have overt or submucousal cleft palate, as well as velopharyngeal incompetence (VPI). Previous studies have demonstrated that the majority of these patients have a submicroscopic deletion of chromosome 22q11.2. We hypothesized that a subpopulation of ...
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Although maternal age has been associated with a number of birth defects in several reports, the literature on the association of maternal age with isolated congenital heart defect (CHD) phenotypes has been limited. We evaluated CHD prevalence based on a cohort of 5,289 infants and fetuses with isolated CHDs born during the period 1968-2005 and ascertained by the Metropolitan Atlanta Congenital...
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