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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
Author(s) -
Gläser B.,
Shirneshan K.,
Bink K.,
Wirth J.,
KehrerSawatzki H.,
Bartz U.,
Zoll B.,
Bohlander Stefan K.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20584
Subject(s) - chromosomal translocation , biology , derivative chromosome , fluorescence in situ hybridization , breakpoint , autosome , microbiology and biotechnology , genetics , x chromosome , chromosome , karyotype , chromosome 4 , chromosome 17 (human) , gene mapping , gene
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. © 2003 Wiley‐Liss, Inc.