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      Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions.

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          Abstract

          Monosomy 1p36 is the most commonly observed terminal deletion syndrome in humans. Our previous molecular studies on a large cohort of subjects suggest that monosomy 1p36 can result from a variety of chromosomal rearrangements including terminal truncations, interstitial deletions, derivative chromosomes, inverted duplications, and complex rearrangements. However, the mechanism(s) by which rearrangements of 1p36 are generated and/or stabilized is not understood. Sequence analysis of breakpoint junctions may provide valuable clues to the underlying mechanisms of many chromosomal aberrations. In this report, we analyze the breakpoints at the DNA-sequence level in four subjects with variable-sized deletions of 1p36. All four breakpoints fall within repetitive DNA-sequence elements (LINEs, SINEs, etc). This suggests that repetitive DNA-sequence elements may play an important role in generating and/or stabilizing terminal deletions of 1p36. Mechanisms by which repetitive elements may be involved in the process of terminal deletion formation and stabilization are discussed.

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          Author and article information

          Journal
          Chromosome Res
          Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology
          Springer Science and Business Media LLC
          0967-3849
          0967-3849
          2004
          : 12
          : 2
          Affiliations
          [1 ] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
          Article
          10.1023/b:chro.0000013165.88969.10
          15053483
          520ed76c-3de7-4b99-bcfa-f32759667372
          History

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