Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations.
We report on the characterization of a de novo, apparently balanced translocation t(X;15)(p11.3;q26) detected in a girl with multiple congenital malformations. Replication banding studies on Epstein-Barr virus transformed peripheral blood lymphocytes revealed non-random X chromosome inactivation with predominant inactivation of the derivative X chromosome. Using chromosomal fluorescence in situ hybridization (FISH), we located the breakpoints to a 30 kb region on the short arm of the X chromosome band p11.3 and to a 160 kb region defined by BAC RP11-89K11 on the long arm of chromosome 15. Our data suggest that the disruption/disturbance of plant homeo domain (PHD) zinc finger gene KIAA0215 or of another gene (RGN, RNU12, P17.3, or RBM10) in the breakpoint region on the X chromosome is not well tolerated and leads to the selection of cells with an active non-rearranged X chromosome.
Gläser
B
B
Institute of Human Genetics, Göttingen, Germany.
Shirneshan
K
K
Bink
K
K
Wirth
J
J
Kehrer-Sawatzki
H
H
Bartz
U
U
Zoll
B
B
Bohlander
Stefan K
SK
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D041321:Chromosomes, Human, X; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic / Q000235:genetics*