scholarly journals OC21.06: Detection of submicroscopic chromosomal aberrations by array-based comparative genomic hybridisation in fetuses with congenital heart disease

2014 ◽  
Vol 44 (S1) ◽  
pp. 50-50
Author(s):  
Q. Wu ◽  
Y. Yan ◽  
L. Zhang ◽  
X. Wang ◽  
S. Dan
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Chromosomal Aberrations ◽  
Congenital Heart ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic

Array CGH as a first-tier test for neonates with congenital heart disease

2013 ◽  
Vol 25 (1) ◽  
pp. 115-122 ◽  
Author(s):  
Kristine K. Bachman ◽  
Stephanie J. DeWard ◽  
Constantinos Chrysostomou ◽  
Ricardo Munoz ◽  
Suneeta Madan-Khetarpal
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Cytogenetic Analysis ◽  
Copy Number ◽  
Congenital Heart ◽  
Clinical Care ◽  
Copy Number Variants ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Array Comparative Genomic Hybridisation

AbstractObjectiveEfficient diagnosis of an underlying genetic aetiology in a patient with congenital heart disease is essential to optimising clinical care. Copy number variants are one aetiology of congenital heart disease; the majority are identifiable by targeted fluorescence in situ hybridisation or array comparative genomic hybridisation, not by classical cytogenetic analysis. This study assessed the utility of array comparative genomic hybridisation as a first-tier diagnostic test for neonates with congenital heart disease.Study designA prospective chart review of neonates with congenital heart disease in the Cardiac Intensive Care Unit at Children’s Hospital of Pittsburgh of UPMC was performed. Patients were tested by array comparative genomic hybridisation and classical cytogenetic analysis simultaneously. Data collected included all chromosome abnormalities detected, physical examination findings, and imaging results. McNemar’s test was used to compare detection of array comparative genomic hybridisation and classical cytogenetic analysis.ResultsOf 45 patients, three (6.7%) had an abnormality detected by classical cytogenetic analysis and an additional 10 (22.2%) had a copy number variant detected by array comparative genomic hybridisation, highlighting an increased detection rate (p=0.008). Several of these copy number variants had unclear clinical significance, requiring additional investigation. The prevalence of dysmorphology and/or comorbidity in this population was 72%. Identification of dysmorphic features was greater when assessed by a geneticist than by providers of different subspecialties.ConclusionsArray comparative genomic hybridisation has significant clinical utility as a first-tier test in this population, but it carries the potential for incidental findings and results of uncertain clinical significance. Collaboration between cardiologists and medical geneticists is essential to providing optimal clinical care.

Abdominal ectopia cordis in an aborted calf without chromosomal aberrations

2021 ◽  
Vol 90 (4) ◽  
pp. 178-181
Author(s):  
N. Caliskan ◽  
E. Forrez ◽  
N. Van Roy ◽  
S. Roels
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Chromosomal Aberrations ◽  
Congenital Heart ◽  
Thoracic Cavity ◽  
Ectopia Cordis ◽  
Cantrell's Pentalogy ◽  
Chromosomal Variants ◽  
Chromosome Alterations

Ectopia cordis is a rare congenital heart disease characterized by partial or complete displacement of the heart out of the thoracic cavity. Apart from cattle, the condition has also been described in humans and is frequently associated with Cantrell’s pentalogy. It is classified into five types: cervical, cervicothoracic, thoracic, abdominal and thoracoabdominal. The prognosis is poor and ectopia cordis may be linked to the presence of unbalanced chromosome alterations. In this report, a case of abdominal ectopia cordis is described in an aborted calf, in which no unbalanced structural chromosomal variants could be identified.

scholarly journals Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

Proceedings ◽  
2020 ◽  
Vol 76 (1) ◽  
pp. 8
Author(s):  
Marisol Delea ◽  
Lucía Massara ◽  
Lucía Espeche ◽  
María Bidondo ◽  
Pablo Barbero ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Anomalies ◽  
Congenital Heart ◽  
Diagnostic Yield ◽  
Copy Number Variations ◽  
Public Hospitals ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Multiple Congenital Anomalies

In this work, we aim to identify the genetic causes of pathogenesis in Argentinean patients with multiple congenital anomalies (MCA) and isolated Congenital Heart Disease (iCHD). We recruited 174 MCA and 194 iCHD patients from 15 public hospitals. Karyotyping was performed for MCA patients, and MLPA for conotruncal CHD or suspected 2q11 Deletion Syndrome (22q11DS). Selected samples were analyzed by array-CGH (Comparative genomic hybridization) (n = 89) and/or Next-Generation Sequencing (NGS) (n = 18). We successfully analyzed 252/368 patients: 14 had cytogenetic abnormalities, 27 had imbalances in 22q11, and 16 had other clinically relevant copy number variations (CNVs). NGS revealed 12 relevant nucleotide variants (five novels). Combining molecular, clinical and genetic evaluations, the diagnostic yield was 26.2%.

scholarly journals A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Anna Zlotina ◽  
Olesia Melnik ◽  
Yulia Fomicheva ◽  
Rostislav Skitchenko ◽  
Alexey Sergushichev ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Optic Disc ◽  
Congenital Heart ◽  
Comparative Genomic ◽  
Regulatory Sequence ◽  
Sequencing Data ◽  
Single Nucleotide Variants ◽  
Optic Disc Coloboma ◽  
Triphalangeal Thumb

Abstract Background Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare well-defined autosomal dominant disorder characterized by long thumbs with three phalanges combined with pre- and postaxial polydactyly/syndactyly of limbs. By now, the syndrome has been reported in several large families from different ethnic backgrounds, with a high degree of inter- and intrafamilial variability. The genome locus responsible for TPT-PS has been mapped to the 7q36.3 region harboring a long-range sonic hedgehog (SHH) regulatory sequence (ZRS). Both single-nucleotide variants and complete duplications of ZRS were shown to cause TPT-PS and similar limb phenotypes. TPT-PS usually forms as isolated limb pathology not associated with additional malformations, in particular, with cardiovascular abnormalities. Case presentation Here we report on a rare Russian neonatal case of TPT-PS combined with severe congenital heart disease, namely double outlet right ventricle, and microphthalmia with optic disc coloboma. Pedigree analysis revealed TPT-PS of various expressivity in 10 family members throughout five generations, while the cardiac defect and the eye pathology were detected only in the proband. To extend the knowledge on genotype–phenotype spectrum of TPT-PS, the careful clinical and genomic analysis of the family was performed. High-resolution array-based comparative genomic hybridization (array-CGH) revealed a ~ 300 kb microduplication of 7q36.3 locus (arr[GRCh37] 7q36.3(156385810_156684811) × 3) that co-segregated with TPT-PS in the proband and her mother. The duplication encompassed three genes including LMBR1, the intron 5 of which is known to harbor ZRS. Based on whole-exome sequencing data, no additional pathogenic mutations or variants of uncertain clinical significance were found in morbid cardiac genes or genes associated with a microphthalmia/anophthalmia/coloboma spectrum of ocular malformations. Conclusions The results support the previous data, indicating that complete ZRS duplication underlies TPT-PS, and suggest a broader phenotypic impact of the 7q36.3 microduplication. Potential involvement of the 7q36.3 microduplication in the patient’s cardiac and eye malformations is discussed. However, the contribution of some additional genetic/epigenetic factors to the complex patient`s phenotype cannot be excluded entirely. Further comprehensive functional studies are needed to prove the possible involvement of the 7q36.3 locus in congenital heart disease and eye pathology.

Sign in / Sign up

Export Citation Format

Share Document