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

David A. Koolen, Lisenka E L M Vissers, Rolph Pfundt, Nicole De Leeuw, Samantha J L 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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)999-1001
Number of pages3
JournalNature Genetics
Volume38
Issue number9
DOIs
Publication statusPublished - Sep 4 2006

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism'. Together they form a unique fingerprint.

  • Cite this

    Koolen, D. A., Vissers, L. E. L. M., Pfundt, R., De Leeuw, N., Knight, S. J. L., Regan, R., Kooy, R. F., Reyniers, E., Romano, C., Fichera, M., Schinzel, A., Baumer, A., Anderlid, B. M., Schoumans, J., Knoers, N. V., Van Kessel, A. G., Sistermans, E. A., Veltman, J. A., Brunner, H. G., & De Vries, B. B. A. (2006). A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nature Genetics, 38(9), 999-1001. https://doi.org/10.1038/ng1853