Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system

Abstract Chromosomal heteromorphisms (CHs) are morphological variations predominantly found in constitutive heterochromatic regions of the genome, primarily composed of tandemly repetitive sequences of satellite DNA. Although not completely devoid of genes, these regions are typically not transcribe...

Full description

Saved in:
Bibliographic Details
Main Authors: Sílvia Pires, Paula Jorge, Thomas Liehr, Natália Oliva-Teles
Format: Article
Language:English
Published: Nature Publishing Group 2024-10-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00295-8
Tags: Add Tag
No Tags, Be the first to tag this record!