Nature Genetics
- 38, 999 - 1001 (2006)
Published online: 13 August 2006; | doi:10.1038/ng1853
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, Nicole de Leeuw, Samantha JL Knight, Regina Regan, R Frank Kooy, Edwin Reyniers, Corrado Romano, Marco Fichera, Albert Schinzel, Alessandra Baumer, Britt-Marie Anderlid, Jacqueline Schoumans, Nine V Knoers, Ad Geurts van Kessel, Erik A Sistermans, Joris A Veltman, Han G Brunner & Bert B A de Vries Supplementary Fig. 1 (pdf 108K)
Array CGH analyses. Supplementary Fig. 2 (pdf 68K)
FISH validation studies. Supplementary Fig. 3 (pdf 56K)
H1 and H2 genotyping. Supplementary Fig. 4 (pdf 76K)
Parent-of-origin analysis for patient 1. Supplementary Table. 1 (pdf 16K)
MLPA primers used for copy number analysis of the 17q21.31 region. Supplementary Methods (pdf 32K) Supplementary Note (pdf 20K)
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