Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX-Reference-Cited by-同舟云学术

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

Published:2024-08-16 Issue:1 Volume:11 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

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

Abstract

AbstractTetrasomy 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.

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41439-024-00289-6.pdf

Reference30 articles.

1. Linden, M. G., Bender, B. G. & Robinson, A. Sex chromosome tetrasomy and pentasomy. Pediatrics 96, 672–682 (1995).

2. Ricciardi, G. et al. Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review. Children. 9, 1719 (2022).

3. Samango-Sprouse, C., Keen, C., Mitchell, F., Sadeghin, T. & Gropman, A. Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX. Am. J. Med. Genet. A 167a, 2251–2259 (2015).

4. Heard, E. & Disteche, C. M. Dosage compensation in mammals: fine-tuning the expression of the X chromosome. Genes Dev. 20, 1848–1867 (2006).

5. Yang, C. et al. X-chromosome inactivation: molecular mechanisms from the human perspective. Hum. Genet. 130, 175–185 (2011).