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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism


Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.

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Figure 1: Analysis of individuals with the 17q21.31 microdeletion syndrome.


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We are thankful to all individuals and parents who participated in this study. In addition, we want to thank I. Scheltinga, I. Neefs, I. Janssen, W. van der Vliet, H. Mieloo, H. Venselaar, G. Schobers and W. Nillesen for expert technical assistance and C. van Ravenswaaij-Arts, M. Ruiter, J. de Bruin and K. Ultee for referral of individuals and clinical analysis. This work was supported by grants from the Netherlands Organisation for Health Research and Development (ZON-MW) (D.A.K., J.A.V., H.G.B. and B.B.A.d.V.), Hersenstichting Nederland (B.B.A.d.V.), The Health Foundation (S.J.L.K.) and The Swedish Research Council (J.S. and B.M.A.)

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Correspondence to Bert B A de Vries.

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The authors declare no competing financial interests.

Supplementary information

Supplementary Fig. 1

Array CGH analyses. (PDF 106 kb)

Supplementary Fig. 2

FISH validation studies. (PDF 65 kb)

Supplementary Fig. 3

H1 and H2 genotyping. (PDF 52 kb)

Supplementary Fig. 4

Parent-of-origin analysis for patient 1. (PDF 75 kb)

Supplementary Table. 1

MLPA primers used for copy number analysis of the 17q21.31 region. (PDF 15 kb)

Supplementary Methods (PDF 28 kb)

Supplementary Note (PDF 18 kb)

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Koolen, D., Vissers, L., Pfundt, R. et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 38, 999–1001 (2006).

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