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A Highly Complex Chromosomal Rearrangement between Five Chromosomes in a Healthy Female Diagnosed in Preparation for Intracytoplasmatic Sperm Injection

Alma Kuechler, Monika Ziegler, Cornelia Blank, Birgit Rommel, Joern Bullerdiek, Jochen Ahrens, Uwe Claussen and Thomas Liehr

Institute of Human Genetics and Anthropology (AK,MZ,UC,TL), Department of Radiotherapy (AK), Friedrich-Schiller-University, Jena, Germany; Center of Human Genetics, University of Bremen, Bremen, Germany (CB,BR,JB); and Practice of Gynecology, Westoverledingen, Germany (JA)

Correspondence to: Dr. Alma Kuechler, Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07743 Jena, Germany. E-mail: almu{at}mti.uni-jena.de

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. (J Histochem Cytochem 53:355–357, 2005)

Key Words: complex chromosomal • rearrangements • 24-color fluorescence in situ • hybridization • multicolor banding • intracytoplasmatic sperm • injection

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