A New Database on Constitutional Human Ring Chromosomes

作者：Thomas Liehr, Peining Li · 发表于：OBM Genetics · 年份：2025 · DOI：10.21926/obm.genet.2502298 · 被引用次数：3 · 研究领域：Forensic and Genetic Research、Genomics and Chromatin Dynamics

Human ring chromosomes (RCs) constitute one of the rarest described inborn chromosomal rearrangements. At first, they seem to be just another subgroup of structural chromosomal aberrations like translocations, inversions, or insertions. However, RCs are more complex, as they almost always occur in conjunction with a mosaic karyotype constitution, resulting in mosaic monosomy of the affected chromosome. Most likely due to the latter effect, a genotype-phenotype correlation is still not available. To proceed with solving this problem, a new database is presented here, which summarizes all constitutional RCs– currently, ~1900 cases have been included. The RC-database (https://cs-tl.de/DB/CA/RC/0-Start.html) has been included in the ChromosOmics database (https://cs-tl.de/DB.html), which already consists of a corresponding collection on small supernumerary marker chromosomes, chromosomal heteromorphisms, constitutional chromosomal breakpoints, and uniparental disomy. Like all others, the RC-database is freely accessible. As first results, the approximate frequency of RCs per chromosome can be assessed, and it can be suggested that the number of RC-carriers with no or minor clinical signs and symptoms is overall ~8%. However, the latter varies clearly according to the chromosomal origin of the RC.