Article
Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.
American journal of medical genetics. Part A - 1 May 2017
Podolska Anna, Kobelt Albrecht, Fuchs Sigrid, Hackmann Karl, Rump Andreas, Schröck Evelin, Kutsche Kerstin, Di Donato Nataliya
Abstract excerpt
Pattern of X chromosome inactivation (XCI) is typically random in females. However, chromosomal rearrangements affecting the X chromosome can result in XCI skewing due to cell growth disadvantage. In case of an X;autosome translocation, this usually leads to an XCI pattern of 100:0 with the derivative X being the active one in the majority of females. A de novo balanced X;6 translocation [46,X,t(X;6)(p22.1;q27)]...
Topics
- Adult
- Cerebellar Vermis
- Chromosomes, Human, Pair 6
- Chromosomes, Human, X
- DNA Polymerase III
- Developmental Disabilities
- Female
- Genes, X-Linked
- Genotype
- Humans