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Ring Chromosome 13
Ring chromosome 13 (RC13) is detected using karyoty**, fluorescence in situ hybridization (FISH), and chromosome microarray analysis (CMA) to...
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Diagnostic Methods for Ring Chromosomes
The molecular characterization of ring chromosome (RC) structural aberrations requires the use of cytogenomic techniques. The first RCs were...
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Ring Chromosome 4
We describe the cytogenomic and clinical characteristics of 47 individuals of ring chromosome 4 (RC4) published in the literature. In nine cases,...
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Ring Chromosome 18
Although it is ultra-rare, ring chromosome 18 (RC18) is one of the most commonly occurring congenital ring chromosomes (RCs). This is likely due to...
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iPSC Models of Ring Chromosomes, Genome Editing, and Chromosome Therapy
Induced pluripotent stem cells (iPSCs) are beneficial for studying of chromosomal diseases, including ring chromosomes (RCs), because iPSCs can be...
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Ring Chromosome 16
Ring chromosome 16 (RC16) is an ultra-rare chromosomal structural abnormality with only eight cases reported in the literature. Included in this case...
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Ring Chromosome Y
Cases with ring chromosome Y (RCY) were detected using karyoty**, fluorescence in situ hybridization (FISH), Southern blotting, PCR analysis, and...
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Ring Chromosome 7
In general, ring chromosomes (RCs) are among the rarest constitutional chromosomal aberrations. Hereby, chromosome 7 comprises only 23 postnatal and...
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Ring Chromosome 11
Ring chromosome 11 (RC11) is a rare chromosomal abnormality with a limited number of cases reported in the literature thus far. Patients with RC11...
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Ring Chromosome 2
Ring chromosome 2 (RC2) in the context of a karyotype with a modal number of 46 chromosomes is an infrequently documented chromosomal structural...
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Ring Chromosome 1
Human chromosome 1 is the largest chromosome and comprises ~249 million base pairs (Mb). Constitutional ring chromosome 1 (RC1) is an ultra-rare...
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Ring Chromosome 21
Ring chromosome 21 (RC21) is detected using karyoty**, fluorescence in situ hybridization (FISH), and chromosome microarray analysis (CMA) to...
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Ring Chromosome 5
Human ring chromosome 5 (RC5) is rare, only accounts for approximately 1.3% of the reported human ring chromosomes (RCs). Cri-du-Chat syndrome and...
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Genetic Databases and Online Ring Chromosome Registry
The rapid adaptations of genomic technologies into genetic testing require knowledge-based genetic databases and disease registries in various...
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Molecular Pathways and Animal Models of Tetralogy of Fallot and Double Outlet Right Ventricle
Tetralogy of Fallot and double-outlet right ventricle are outflow tract (OFT) alignment defects situated on a continuous disease spectrum. A myriad...
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Human Genetics of Truncus Arteriosus
Integrated human genetics and molecular/developmental biology studies have revealed that truncus arteriosus is highly associated with 22q11.2...
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Human Genetics of Ventricular Septal Defect
Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40% of all cardiac...
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Clinical Presentation and Therapy of Atrioventricular Septal Defect
Atrioventricular septal defects (AVSDs) consist of a number of cardiac malformations that result from abnormal development of the endocardial...
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Human Genetics of d-Transposition of Great Arteries
Although several genes underlying occurrence of transposition of the great arteries have been found in the mouse, human genetics of the most frequent...
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Human Genetics of Ebstein Anomaly
Ebstein anomaly (EA) is a rare, congenital cardiac defect of the tricuspid valve with a birth prevalence between 0.5 and 1 in 20,000 [1]. It is...