Abstract
BackgroundThe 22q11.2 microdeletion syndrome is a common condition that is associated with cardiac as well as extra-cardiac manifestations. Its prevalence and manifestations from north India has not been reported. This study was designed to determine the prevalence and ability of clinical criteria to predict 22q11.2 microdeletion.MethodsA total of 146 cases of cardiac malformation requiring tertiary care at a teaching hospital were prospectively screened for 22q11.2 microdeletion using fluorescence in situ hybridization test. Detailed clinical information was obtained as per guidelines of Tobias, et al (1999).ResultsNine out of 146 patients (6.16%) was found to have 22q11.2 microdeletion. All the positive patients showed the presence of extra-cardiac features of 22q11.2 microdeletion syndrome. None of the cases with isolated cardiac defect were positive for microdeletion.ConclusionsIt seems that 22q11.2 microdeletion syndrome is over-suspected in children with isolated congenital heart defects. Screening for 22q11.2 microdeletion should be considered in those cardiac malformation cases which have extra-cardiac manifestations in the form of facial dysmorphism and hypocalcaemia.
Highlights
The 22q11.2 microdeletion syndrome is a common condition that is associated with cardiac as well as extra-cardiac manifestations
This study was aimed to investigate the prevalence of 22q11.2 microdeletion syndrome in cases with congenital cardiac malformation with or without other congenital anomalies
Conotruncal Anomalies: tetralogy of Fallot, truncus arteriosus communis, double-outlet right ventricle, persistent truncus arteriosus TOF: Pulmonary stenosis, overriding aorta, ventricular septal defect, right ventricular hypertrophy Additional findings: stenosis of the left pulmonary artery, bicuspid pulmonary valve, right-sided aortic arch, a foramen ovale, or atrial septal defect, an atrioventricular septal defect both one and two signals in interphase (15% deleted) as well as in metaphase (10% deleted) cells was observed, the case was considered to have mosaicism
Summary
The 22q11.2 microdeletion syndrome is a common condition that is associated with cardiac as well as extra-cardiac manifestations. Its prevalence and manifestations from north India has not been reported. This study was designed to determine the prevalence and ability of clinical criteria to predict 22q11.2 microdeletion. The 22q11.2 microdeletion syndrome is characterized by hemizygous microdeletion of 22q11.2 region of chromosome 22. It occurs at a frequency of 1 in 4,000 to 6,000 live births [1], and is mostly spontaneous [2]. The 22q11.2 microdeletion is found in patients with DiGeorge syndrome, Velocardiofacial syndrome and Conotruncal anomaly face syndromes [4]. The cardiac anomalies involve conotruncus, and include lesions such as tetralogy of Fallot (TOF: pulmonary stenosis, overriding aorta, ventricular septal defect & right ventricular hypertrophy), truncus arteriosus (TA) [4] and double-outlet right ventricle besides interrupted aortic arch and subaortic ventricular septal defect.
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