Complete chromosome 21 centromere sequencing of families with Down syndrome - PubMed
5 hours ago
- #chromosome 21
- #centromere sequencing
- #Down syndrome
- Down syndrome results from trisomy 21, often due to maternal meiosis I errors.
- Complete centromere sequencing of chromosome 21 in families with Down syndrome shows small centromeres are not enriched, contrary to earlier hypotheses.
- Some cases exhibit extreme centromere size asymmetry (>10-fold difference), with mothers carrying very small centromeres.
- Chromosome 21 is prone to centromere size asymmetry, with significant differences observed over recent human evolution.
- Long-read sequencing enabled assembly of centromeres, overcoming challenges from repetitive sequences and homology with chromosome 13.