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Human Genetics

, Volume 103, Issue 2, pp 173–178 | Cite as

Molecular characterization and delineation of subtle deletions in de novo “balanced” chromosomal rearrangements

  • Arun Kumar
  • Laurie A. Becker
  • Theresa W. Depinet
  • J. Marie Haren
  • C. Lisa Kurtz
  • Nathaniel H. Robin
  • Suzanne B. Cassidy
  • Daynna J. Wolff
  • S. Schwartz
Original Investigation
  • 64 Downloads

Abstract

To test the hypothesis that the phenotypic abnormalities seen in cases with apparently balanced chromosomal rearrangements are the result of the presence of cryptic deletions or duplications of chromosomal material near the breakpoints, we analyzed three cases with apparently balanced chromosomal rearrangements and phenotypic abnormalities. We characterized the breakpoints in these cases by using microsatellite analysis by polymerase chain reaction and fluorescence in situ hybridization analysis of yeast artificial chromosome clones selected from the breakpoint regions. Molecular characterization of the translocation breakpoint in patient 1 [46,XY,t(2;6)(p22.2;q23.1)] showed the presence of a 4- to 6-Mb cryptic deletion between markers D6S412 and D6S1705 near the 6q23.1 breakpoint. Molecular characterization of the proximal inversion 7q22.1 breakpoint in patient 2 [46,XY,inv(7)(q22.1q32.1)] revealed the presence of a 4-Mb cryptic deletion between D7S651 and D7S515 markers. No deletion or duplication of chromosomal material was found near the breakpoints in patient 3 [46,XX,t(2;6)(q33.1;p12.2)]. Our study suggests that a systematic molecular study of breakpoints should be carried out in cases with apparently balanced chromosomal rearrangements and phenotypic abnormalities, because cryptic deletions near the breakpoints may explain the phenotypic abnormalities in these cases.

Keywords

Polymerase Chain Reaction Molecular Characterization Molecular Study Chromosomal Rearrangement Hybridization Analysis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • Arun Kumar
    • 1
  • Laurie A. Becker
    • 1
  • Theresa W. Depinet
    • 1
  • J. Marie Haren
    • 1
  • C. Lisa Kurtz
    • 1
  • Nathaniel H. Robin
    • 1
  • Suzanne B. Cassidy
    • 1
  • Daynna J. Wolff
    • 1
  • S. Schwartz
    • 1
  1. 1.Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, 10524 Euclid Avenue, 6th Floor, Cleveland, OH 44106–9959, USA e-mail: SXS95@PO.CWRU.EDU, Tel.: +1 216 983-1134, Fax: +1 216 983-1144US

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