Prevalence of 22q11 microdeletion.
نویسندگان
چکیده
منابع مشابه
Detection 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...
متن کاملVEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study.
Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a significant cause of morbidity and mortality. The phenotypic variability suggests the presence of modifiers. Polymorphisms in the VEGFA gene, coding for ...
متن کاملPattern of Congenital Heart Defects in 22q11 Microdeletion Syndrome in India – A Tertiary Care Cardiac Hospital Based Study
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...
متن کاملVelopharyngoplasty for noncleft velopharyngeal insufficiency: results in relation to 22q11 microdeletion.
OBJECTIVE To evaluate the results of velopharyngoplasty for velopharyngeal insufficiency (VPI) in relation to 22q11 deletion or nonsyndromic VPI. DESIGN Retrospective study. SETTING Academic medical center. PATIENTS Eleven of 45 patients with 22q11 microdeletion (group 1) and 9 patients without 22q11 microdeletion (group 2) with noncleft VPI (hypoplastic velum or hypodynamic velopharynx a...
متن کاملPrenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion.
Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH) for 22q11 deletion in two fetuses with tetralogy of Fallot. Karyotyping and FISH of the parents revealed that one fetus inherited the disease from maternal...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 33 8 شماره
صفحات -
تاریخ انتشار 1996