A highly complex chromosomal rearrangement between five chromosomes in a healthy female diagnosed in preparation for intracytoplasmatic sperm injection.
We report a case of a de novo complex chromosomal rearrangement among five chromosomes found in a clinically healthy woman. The only indication for chromosome analysis was a planned intracytoplasmatic sperm injection. Physical examination, including internal and external genitals, and ovaries and hormone status were normal. Banding cytogenetics showed a rearrangement among chromosomes #3, #4, #7, #9, and #17. Twenty-four-color fluorescence in situ hybridization and multicolor banding were applied to characterize the translocations and breakpoints more precisely. This confirmed the involved chromosomes and revealed two breakpoints in chromosome #4. This six-breakpoint rearrangement [der(3)t(3;4), der(4)t(17;4;7), der(7)t(3;7), der(9)t(4;9), and der(17)t(9;17)] seemed to be balanced on a molecular cytogenetic level, although submicroscopic deletions or duplications close to the breakpoints cannot be excluded.
Kuechler
Alma
A
Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07743 Jena, Germany. almu@mti.uni-jena.de
Ziegler
Monika
M
Blank
Cornelia
C
Rommel
Birgit
B
Bullerdiek
Joern
J
Ahrens
Jochen
J
Claussen
Uwe
U
Liehr
Thomas
T
D000328:Adult; D002871:Chromosome Banding; D019457:Chromosome Breakage; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D020554:Sperm Injections, Intracytoplasmic; D014178:Translocation, Genetic