Congenital heart defects in the recurrent 2q13 deletion syndrome

2021 ◽  
pp. 104381
Author(s):  
M.C. Digilio ◽  
M.L. Dentici ◽  
S. Loddo ◽  
L. Laino ◽  
G. Calcagni ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Deletion Syndrome ◽  
2Q13 Deletion

Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review

2016 ◽  
Vol 148 (1) ◽  
pp. 6-13
Author(s):  
Kaihui Zhang ◽  
Fengling Song ◽  
Dongdong Zhang ◽  
Yong Liu ◽  
Haiyan Zhang ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Ring Chromosome ◽  
Deletion Syndrome ◽  
Facial Features ◽  
Whole Genome Microarray ◽  
Available Information ◽  
3P Deletion Syndrome

Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.

Macrothrombocytopenia as diagnosis predictor of 22q11 deletion syndrome among patients with congenital heart defects

2015 ◽  
Vol 167 (6) ◽  
pp. 1406-1408 ◽  
Author(s):  
Patrícia Trevisan ◽  
Sílvia Barbosa ◽  
Graziela Sperotto ◽  
Caroline Costi ◽  
Reinaldo L. de Omena Filho ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome

scholarly journals Screening for 22q11 deletion syndrome among patients with congenital heart defects

2014 ◽  
Vol 132 (2) ◽  
pp. 125-126 ◽  
Author(s):  
Rafael Fabiano Machado Rosa ◽  
Rosana Cardoso Manique Rosa ◽  
Patrícia Trevisan ◽  
Carla Graziadio ◽  
Marileila Varella-Garcia ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome

scholarly journals Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Sathiya Maran ◽  
Siti Aisyah Faten ◽  
Swee-Hua Erin Lim ◽  
Kok-Song Lai ◽  
Wan Pauzi Wan Ibrahim ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Diagnostic Method ◽  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Confirmatory Test ◽  
Deletion Syndrome ◽  
Molecular Diagnostic ◽  
Nonallelic Homologous Recombination ◽  
Dependent Probe

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.

scholarly journals Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

2016 ◽  
Vol 135 (3) ◽  
pp. 273-285 ◽  
Author(s):  
Elisabeth E. Mlynarski ◽  
◽  
Michael Xie ◽  
Deanne Taylor ◽  
Molly B. Sheridan ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Copy Number ◽  
Congenital Heart ◽  
Heart Defects ◽  
Copy Number Variants ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

Role of hypocalcemia in identification of 22q11 deletion syndrome among patients with congenital heart defects

2014 ◽  
Vol 177 (1) ◽  
pp. 6-7
Author(s):  
Vinicius Freitas de Mattos ◽  
Leonardo Paludo Sulczinski ◽  
Olga Gaio Milner ◽  
Filipe Augusto da Silva ◽  
Samir Abou Ghaouche de Moraes ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome

scholarly journals Multiplex Ligation-Dependent Probe Amplification Analysis ofGATA4Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease

2010 ◽  
Vol 28 (5) ◽  
pp. 287-292 ◽  
Author(s):  
Valentina Guida ◽  
Francesca Lepri ◽  
Raymon Vijzelaar ◽  
Andrea De Zorzi ◽  
Paolo Versacci ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Copy Number ◽  
High Performance ◽  
Congenital Heart ◽  
Clinical Symptoms ◽  
Heart Defects ◽  
Gene Mutations ◽  
Copy Number Variations ◽  
Deletion Syndrome ◽  
Dependent Probe

GATA4mutations are found in patients with different isolated congenital heart defects (CHDs), mostly cardiac septal defects and tetralogy of Fallot. In addition,GATA4is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. Thus far, no study has been carried out to investigate the role ofGATA4copy number variations (CNVs) in non-syndromic CHDs. To explore the possible occurrence ofGATA4gene CNVs in isolated CHDs, we analyzed by multiplex ligation-dependent probe amplification (MLPA) a cohort of 161 non-syndromic patients with cardiac anomalies previously associated withGATA4gene mutations. The patients were mutation-negative forGATA4,NKX2.5, andFOG2genes after screening with denaturing high performance liquid chromatography. MLPA analysis revealed that normalized MLPA signals were all found within the normal range values for all exons in all patients, excluding a major contribution ofGATA4gene CNVs in CHD pathogenesis.

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