Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome.
An unusual mosaic karyotype was detected in a 6-year-old female patient with clinical diagnosis of Turner syndrome (TS). Cytogenetic and molecular cytogenetic studies revealed besides a cell line with 45,X a second cell line where the short arm of the Y-chromosome was translocated onto the short arm of a chromosome 7; karyotype: 45,X,der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)/45,X. To delineate the mechanisms of rearrangement and karyotypic evolution in this case, further studies were performed. A maternal origin of the X-chromosome and biparental origin of both chromosomes 7 were determined by microsatellite analysis. Furthermore, using parental-origin-determination fluorescence in situ hybridization (pod-FISH) it could be established that the derivative chromosome 7 was of paternal origin. Overall, this is to the best of our knowledge the first report of such a complex mosaic TS karyotype.
Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07743 Jena, Germany.
Anna D
AD
Polityko
Olga M
OM
Khurs
Anna I
AI
Kulpanovich
Konstantin A
KA
Mosse
Angelica V
AV
Solntsava
Natalia V
NV
Rumyantseva
Irina V
IV
Naumchik
Thomas
T
Liehr
Anja
A
Weise
Hasmik
H
Mkrtchyan
D002648:Child; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005220:Fathers; D005260:Female; D006239:Haplotypes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009030:Mosaicism; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*