Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX

Abstract Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally derived sex chromosomes. This finding indicates a rare...

Full description

Saved in:
Bibliographic Details
Main Authors: Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto
Format: Article
Language:English
Published: Nature Publishing Group 2024-08-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00289-6
Tags: Add Tag
No Tags, Be the first to tag this record!