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Keywords:

  • lissencephaly;
  • Miller–Dieker syndrome;
  • partial monosomy 17p;
  • partial trisomy 20p

Abstract

The isolated lissencephaly sequence may be caused by point mutations of the LIS1 gene or by FISH-detectable microdeletions of the 17p13.3 region, which carries the LIS1 gene. These have various patterns of phenotypic presentations, including the Miller–Dieker syndrome (MDS). Approximately 20% of these deletions are associated with a derivative chromosome 17 inherited from a parent who has a balanced reciprocal translocation involving chromosome 17 and another chromosome. We report a case of lissencephaly associated with a maternally inherited unbalanced translocation involving chromosome arms 17p and 20p. This results in partial monosomy of 17p13.3[RIGHTWARDS ARROW]pter and partial trisomy of 20p12.2[RIGHTWARDS ARROW]pter. To our knowledge, this is the first report of a reciprocal translocation between 17p and 20p. Our patient has a combination of findings of the MDS and trisomy 20p, along with several unique anomalies not described in either of those two conditions. This report may contribute to the delineation of a phenotype resulting from partial monosomy 17p and partial trisomy of 20p. © 2003 Wiley-Liss, Inc.