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...
Saved in:
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!
|
Similar Items
-
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait
by: Keiko Shimojima Yamamoto, et al.
Published: (2024-05-01) -
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
by: Hane Lee, et al.
Published: (2025-01-01) -
Acquired sperm hypomethylation by gestational arsenic exposure is re-established in both the paternal and maternal genomes of post-epigenetic reprogramming embryos
by: Keiko Nohara, et al.
Published: (2025-01-01) -
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder
by: Rina Shimomura, et al.
Published: (2024-01-01) -
Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient
by: Rei Takada, et al.
Published: (2024-02-01)