Supplementary Material for a Complex Chromosome 18 Rearrangement

This dataset contains supplementary material for a case study describing the fifth confirmed instance of a specific, non-parental chromosome 18 rearrangement. It details a 9.7 Mb duplication in 18p and a 25.8 Mb deletion in 18q, analyzed using karyotyping, chromosomal microarrays, FISH, whole genome sequencing, and Sanger sequencing. The data, published by Karger Publishers under CC-BY-4.0, provides nucleotide-level breakpoint analysis supporting a replication-based mechanism for the structural variant.

Use Cases

• Correlating specific 18p and 18q breakpoints with patient phenotypes for karyotype-phenotype studies.
• Analyzing microhomology and insertion sequences at rearrangement junctions to infer molecular mechanisms.
• Serving as a reference case for diagnosing complex chromosomal rearrangements not derived from parental inversions.
• Validating genomic analysis techniques combining karyotype, microarray, FISH, and sequencing data.

Strengths

• Breakpoints are determined at nucleotide-level resolution, a first for this type of chromosome 18 rearrangement.
• Analysis integrates results from five distinct laboratory techniques (karyotype, microarrays, FISH, WGS, Sanger sequencing).
• Provides detailed structural characterization of a 9.7 Mb duplication and a 25.8 Mb deletion with precise genomic coordinates.

Limitations

• The dataset consists of a single patient case study, limiting statistical power and generalizability.
• Column names and row counts are not provided by any source, obscuring the dataset's internal structure.
• Sources conflict on the exact row count, with one listing 'unknown' and another 'None'.

Provenance

Source

Karger Publishers

Collection Method

Clinical investigation of a patient using karyotype, catalog and custom chromosomal microarrays, FISH, whole genome sequencing, and Sanger sequencing.

Freshness

2026-03-25