New trends in chromosomal investigation in children with cardiovascular malformations

Schellberg, Ruth M.; Schwanitz, Gesa; Grävinghoff, L.; Kallenberg, R.; Trost, Detlef; Raff, Ruth; Wiebe, Walter

doi:10.1017/s1047951104006079

Cited by 12 publications

(10 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…1i) was mapped by locus‐specific FISH detecting a 2.2 Mb microdeletion in 5q35 spanning genes probably responsible for the CHD and microcephaly present in this patient, as was recently published [Baekvad‐Hansen et al, 2006]. Moreover, recent screening for subtelomeric regions identified submicroscopic alterations in 1p, 1q and 9q in patients with CHD as the main feature [Schellberg et al, 2004; Stewart et al, 2004].…”

Section: Discussionsupporting

confidence: 61%

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

Fernández¹,

Lapunzina²,

Pajares³

et al. 2008

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Screening for 22q11.2 deletions has not an easy approach due to the wide variability of their associated phenotype. Many clinical features overlap with those of other known syndromes and reported loci. Patients referred to exclude a 22q11.2 deletion are usually tested with a locus-specific FISH probe, with 10% positive cases depending on the selection criteria, but patients testing negative for FISH at 22q11.2 may have other chromosomal aberrations in routine cytogenetic analysis. We tested 819 patients suspected of having a 22q11.2 deletion. Eighty-eight patients (10.7%) were positive for 22q11.2 deletion, whereas 30 patients (3.7%) showed other chromosomal abnormalities involving deletions and duplications, derivative chromosomes, marker chromosomes, apparently balanced and unbalanced translocations and sex chromosome aneuploidies. Of these alterations, 28 did not involve region 22q11 and most had not been associated with 22q11.2 deletion phenotype before. We discuss the similarity of DiGeorge/velocardiofacial syndrome with other known clinical entities and suggest correlations between the new loci and the observed clinical features. The frequency of unrelated chromosomal anomalies reported in this study and in other previous reports highlights the importance of conventional cytogenetic analysis as an initial genome-wide screening tool in all referred patients, and provides useful data to optimize diagnostic and screening protocols according to the most frequent chromosomal findings.

show abstract

Section: Discussionsupporting

confidence: 61%

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

Fernández¹,

Lapunzina²,

Pajares³

et al. 2008

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Studies such as the one by Schellberg et al 28 , which excluded patients with frequent chromosomal alterations (such as trisomy 21) from the sample, were not included in our analysis. The vast majority of similar studies were developed in the United States and Europe.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal Abnormalities in Patients with Congenital Heart Disease

Trevisan¹,

Zen²,

Rosa³

et al. 2013

Arquivos Brasileiros De Cardiologia

View full text Add to dashboard Cite

BackgroundChromosomal abnormalities (CAs) are an important cause of congenital heart disease (CHD).ObjectiveDetermine the frequency, types and clinical characteristics of CAs identified in a sample of prospective and consecutive patients with CHD.MethodOur sample consisted of patients with CHD evaluated during their first hospitalization in a cardiac intensive care unit of a pediatric referral hospital in Southern Brazil. All patients underwent clinical and cytogenetic assessment through high-resolution karyotype. CHDs were classified according to Botto et al. Chi-square, Fisher exact test and odds ratio were used in the statistical analysis (p < 0.05).ResultsOur sample consisted of 298 patients, 53.4% males, with age ranging from 1 day to 14 years. CAs were observed in 50 patients (16.8%), and 49 of them were syndromic. As for the CAs, 44 (88%) were numeric (40 patients with +21, 2 with +18, 1 with triple X and one with 45,X) and 6 (12%) structural [2 patients with der(14,21), +21, 1 with i(21q), 1 with dup(17p), 1 with del(6p) and 1 with add(18p)]. The group of CHDs more often associated with CAs was atrioventricular septal defect.ConclusionsCAs detected through karyotyping are frequent in patients with CHD. Thus, professionals, especially those working in Pediatric Cardiology Services, must be aware of the implications that performing the karyotype can bring to the diagnosis, treatment and prognosis and for genetic counseling of patients and families.

show abstract

“…Microscopically visible chromosomal aberrations are present in 8–18 % of CHD patients [142–144]. Furthermore, CHD is a characteristic part of the clinical spectrum in a significant number of syndromes caused by a chromosome abnormality.…”

Section: Part Ii: Chromosomal Aberrations In Congenital Heart Diseasementioning

confidence: 99%

Of mice and men: molecular genetics of congenital heart disease

Andersen

Troelsen

Larsen

2013

Cell. Mol. Life Sci.

158

157

View full text Add to dashboard Cite

Congenital heart disease (CHD) affects nearly 1 % of the population. It is a complex disease, which may be caused by multiple genetic and environmental factors. Studies in human genetics have led to the identification of more than 50 human genes, involved in isolated CHD or genetic syndromes, where CHD is part of the phenotype. Furthermore, mapping of genomic copy number variants and exome sequencing of CHD patients have led to the identification of a large number of candidate disease genes. Experiments in animal models, particularly in mice, have been used to verify human disease genes and to gain further insight into the molecular pathology behind CHD. The picture emerging from these studies suggest that genetic lesions associated with CHD affect a broad range of cellular signaling components, from ligands and receptors, across down-stream effector molecules to transcription factors and co-factors, including chromatin modifiers.

show abstract

New trends in chromosomal investigation in children with cardiovascular malformations

Cited by 12 publications

References 16 publications

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

Chromosomal Abnormalities in Patients with Congenital Heart Disease

Of mice and men: molecular genetics of congenital heart disease

Contact Info

Product

Resources

About