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

Keiko Shimojima Yamamoto; Sakurako Yamamoto; Taichi Imaizumi; Satoko Kumada; Toshiyuki Yamamoto

doi:10.1038/s41439-024-00289-6

Human Genome Variation (Aug 2024)

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

Keiko Shimojima Yamamoto,
Sakurako Yamamoto,
Taichi Imaizumi,
Satoko Kumada,
Toshiyuki Yamamoto

Affiliations

Keiko Shimojima Yamamoto: Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University
Sakurako Yamamoto: Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital
Taichi Imaizumi: Department of Pediatrics, St. Marianna University School of Medicine
Satoko Kumada: Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital
Toshiyuki Yamamoto: Institute of Medical Genetics, Tokyo Women’s Medical University

DOI: https://doi.org/10.1038/s41439-024-00289-6
Journal volume & issue: Vol. 11, no. 1
pp. 1 – 5

Abstract

Read online

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 incidental co-occurrence of maternal and paternal nondisjunction or polysomy rescue. The mechanism of 48,XXYY, which is related to developmental delay in males, was analyzed for comparison.

Published in Human Genome Variation

ISSN: 2054-345X (Online)
Publisher: Nature Publishing Group
Country of publisher: United Kingdom
LCC subjects: Science: Biology (General): Genetics; Science: Biology (General): Life
Website: http://www.nature.com/hgv/

About the journal