Chromosome 22q11 Deletion Syndrome: Discovery and Associated Cardiovascular Anomalies
نویسندگان
چکیده
منابع مشابه
Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies.
BACKGROUND A ventricular septal defect (VSD) is the most common form of congenital heart disease and is one of the most common cardiovascular anomalies in individuals with chromosome 22q11 deletion syndrome. However, the frequency of a chromosome 22q11 deletion in patients with a VSD is not known. In addition, among patients with a VSD, it is not clear whether particular types of VSD or associa...
متن کامل22q11 Deletion Syndrome with Vascular Anomalies
DiGeorge syndrome, also termed 22q11.2 deletion syndrome, represents a spectrum of disorders that include thymic aplasia/hypoplasia, parathyroid aplasia/hypoplasia, conotruncal vascular anomalies, and velocardiofacial (Shprintzen) syndrome. This case report describes a novel constellation of cardiovascular anomalies in a 31-year-old patient with 22q11.2 deletion confirmed by fluorescence in sit...
متن کاملCardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age.
OBJECTIVE Cardiovascular anomalies are present in 75% to 80% of patients with a chromosome 22q11 deletion. In the majority of cases, the cardiovascular defect becomes evident in the neonatal period and is often the initial manifestation of the chromosome 22q11 deletion syndrome. However, a 22q11 deletion may also be associated with cardiovascular defects that are less obvious, such as a vascula...
متن کاملTruncus arteriosus communis associated with chromosome 22q11 deletion.
OBJECTIVES The purpose of this study was to clarify characteristics of truncus arteriosus communis associated with chromosome 22q11 deletion (del 22q11). BACKGROUND DiGeorge syndrome and conotruncal anomaly face syndrome are associated with del 22q11 (hemizygosity). In 30% of cases, truncus arteriosus communis is associated with the deletion. METHODS Fifteen consecutive patients with truncu...
متن کاملHypoparathyroidism and 22q11 deletion syndrome.
AIMS To investigate a population of individuals with 22q11 deletion syndrome for hypocalcaemia. METHODS A detailed clinical history enquiring into symptoms of hypocalcaemia and blood sampling to assess for hypocalcaemia and hypoparathyroidism, of patients outside the neonatal period known to have the 22q11 microdeletion from fluorescent in situ hybridisation studies was taken. RESULTS Sixty...
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ژورنال
عنوان ژورنال: Pediatric Cardiology and Cardiac Surgery
سال: 2017
ISSN: 0911-1794,2187-2988
DOI: 10.9794/jspccs.33.3