Although carriers of constitutional inversions and balanced translocations are usually phenotypically normal, these chromosomal aberrations have been identified as possible causes of reproductive problems. Balanced constitutional chromosome rearrangements are generally considered to be one-off events that occur de novo or, due to their described potential negative effects on fitness, spread at most within (small) families. However, recurrent breakpoints have also been reported in apparently unrelated individuals, like pericentric inversions in chromosomes 2 and 9. Here, we present 14 additional repeatedly observed chromosomal rearrangements (mainly from Germany/Central Europe) that could be characterized by various molecular cytogenetic probes in routine infertility diagnostics.

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FISH for Repeatedly Observed Constitutional Rearrangements

  • Thomas Liehr

摘要

Although carriers of constitutional inversions and balanced translocations are usually phenotypically normal, these chromosomal aberrations have been identified as possible causes of reproductive problems. Balanced constitutional chromosome rearrangements are generally considered to be one-off events that occur de novo or, due to their described potential negative effects on fitness, spread at most within (small) families. However, recurrent breakpoints have also been reported in apparently unrelated individuals, like pericentric inversions in chromosomes 2 and 9. Here, we present 14 additional repeatedly observed chromosomal rearrangements (mainly from Germany/Central Europe) that could be characterized by various molecular cytogenetic probes in routine infertility diagnostics.