Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures-Reference-Cited by-同舟云学术

Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures

Published:2024-08-09 Issue: Volume: Page:
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Tamura Takeaki,Shimojima Yamamoto Keiko^ORCID,Tohyama Jun,Morioka Ichiro,Kanno Hitoshi^ORCID,Yamamoto Toshiyuki^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s10038-024-01286-x.pdf

Reference26 articles.

1. Jacobs PA, Browne C, Gregson N, Joyce C, White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet. 1992;29:103–8.

2. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet. 1991;49:995–1013.

3. Gimelli S, Chrast J, Baban A, Henrichsen CN, Lerone M, Zuffardi O, et al. A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes. Am J Med Genet A. 2010;152a:1285–94.

4. Tamura T, Shimojima Yamamoto K, Imaizumi T, Yamamoto H, Miyamoto Y, Yagasaki H, et al. Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C. Am J Med Genet A. 2023;191:1632–8.

5. Yamamoto T, Shimojima K, Shimada S, Yokochi K, Yoshitomi S, Yanagihara K, et al. Clinical impacts of genomic copy number gains at Xq28. Hum Genome Var. 2014;1:14001.