The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of
                        Microdeletion Syndrome in Cameroon

Background. The 22q11.2 deletion syndrome (22q11.2DS) is the most common form of deletion disorder in humans. Low copy repeats flanking the 22q11.2 region confers a substrate for nonallelic homologous recombination (NAHR) events leading to rearrangements which have been reported to be associated with highly variable and expansive phenotypes. The 22q11.2DS is reported as the most common genetic cause of congenital heart defects (CHDs). Methods. A total of 42 patients with congenital heart defects, as confirmed by echocardiography, were recruited. Genetic molecular analysis using a fluorescence in situ hybridization (FISH) technique was conducted as part of routine 22q11.2DS screening, followed by multiplex ligation-dependent probe amplification (MLPA), which serves as a confirmatory test. Results. Two of the 42 CHD cases (4.76%) indicated the presence of 22q11.2DS, and interestingly, both cases have conotruncal heart defects. In terms of concordance of techniques used, MLPA is superior since it can detect deletions within the 22q11.2 locus and outside of the typically deleted region (TDR) as well as duplications. Conclusion. The incidence of 22q11.2DS among patients with CHD in the east coast of Malaysia is 0.047. MLPA is a scalable and affordable alternative molecular diagnostic method in the screening of 22q11.2DS and can be routinely applied for the diagnosis of deletion syndromes.

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Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil

Journal of Pediatric Genetics ◽

10.1055/s-0040-1713155 ◽

2020 ◽

Vol 09 (04) ◽

pp. 227-234

Author(s):

Bruna Lixinski Diniz ◽

Andressa Schneiders Santos ◽

Andressa Barreto Glaeser ◽

Bruna Baierle Guaraná ◽

Cláudia Fernandes Lorea ◽

...

Keyword(s):

Congenital Heart ◽

Chromosomal Abnormalities ◽

Heart Defects ◽

22Q11.2 Deletion Syndrome ◽

Clinical Findings ◽

Deletion Syndrome ◽

Facial Features ◽

Southern Brazil ◽

22Q11.2 Deletion ◽

Clinical Criteria

Abstract22q11.2 deletion syndrome (22q11.2DS) is considered one of the most frequently observed chromosomal abnormalities in association with congenital heart disease (CHD), which can also include some combination of other features. Thus, the aim of this work was to verify the profile of dysmorphic features and heart defects found in patients referred to a reference center in Southern Brazil with clinical findings suggestive of 22q11.2DS. In the overall sample group, only patients with dysmorphic facial features (skull, eyes, ear, and nose) associated with CHD (obstructive pulmonary valve ring, truncus arteriosus, and bicuspid aortic valve associated with atrial septal defect and/or right aortic arch) had a 22q11.2 deletion. These findings proved to be reliable clinical criteria for referral to perform fluorescent in situ hybridization investigation for 22q11.2 deletion.

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Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2014.04.021 ◽

2014 ◽

Vol 53 (2) ◽

pp. 248-251 ◽

Cited By ~ 4

Author(s):

Yu-Ling Kuo ◽

Chih-Ping Chen ◽

Liang-Kai Wang ◽

Tsang-Ming Ko ◽

Tung-Yao Chang ◽

...

Keyword(s):

Congenital Heart ◽

Heart Defects ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Molecular Cytogenetic ◽

Chromosome 22Q11.2 ◽

Cytogenetic Characterization ◽

Chromosome 22Q11.2 Deletion Syndrome

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Conotruncal heart defects and aortic arch anomalies in fetuses with 22q11.2 deletion syndrome

10.21516/2413-1458-2020-19-3-203-209 ◽

2020 ◽

Author(s):

I.V. Novikova, O.M. Khurs, T.V. Demidovich et all

Keyword(s):

Aortic Arch ◽

Heart Defects ◽

22Q11.2 Deletion Syndrome ◽

Ventricular Outflow Tract ◽

Double Outlet Right Ventricle ◽

Interrupted Aortic Arch ◽

Left Ventricular ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Aortic Arch Anomalies

16 second trimester fetuses with 22q11.2 deletion syndrome have been examined at anatomic-pathological investigation. Main cardiovascular diseases were ascending aorta hypoplasia with aortic valve stenosis (n = 6; 37.5%), truncus arteriosus (n = 5; 31.25%), tetralogy of Fallot (n = 3; 18.75%) and double-outlet right ventricle (n = 1; 6.25%). Ventricular septal defect was present in 16 cases. Associated aortic arch anomalies included interrupted aortic arch (n = 9; 56.25%), right aortic arch (n = 6; 37.5%), retroesophageal ring (n = 1; 6.25%) and aberrant right subclavian arteria (n = 5; 31.25%). 5 fetuses had left ventricular outflow tract obstructive lesions with interrupted aortic arch of type B combined with aberrant right subclavian arteria.

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