Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat
Article first published online: 7 AUG 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 124A, Issue 3, pages 292–295, 30 January 2004
How to Cite
Thomas, M. A., Duncan, A. M.V., Bardin, C. and Kaloustian, V. M. D. (2004), Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat. Am. J. Med. Genet., 124A: 292–295. doi: 10.1002/ajmg.a.20373
- Issue published online: 31 DEC 2003
- Article first published online: 7 AUG 2003
- Manuscript Accepted: 1 MAY 2003
- Manuscript Received: 17 SEP 2002
- Miller–Dieker syndrome;
- partial monosomy 17p;
- partial trisomy 20p
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 17p13.3pter and partial trisomy of 20p12.2pter. 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.