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 Koolen1, Lisenka E L M Vissers1, Rolph Pfundt1, Nicole de Leeuw1, Samantha JL Knight2, Regina Regan2, R Frank Kooy3, Edwin Reyniers3, Corrado Romano4, Marco Fichera4, Albert Schinzel5, Alessandra Baumer5, Britt-Marie Anderlid6, Jacqueline Schoumans6, Nine V Knoers1, Ad Geurts van Kessel1, Erik A Sistermans1, Joris A Veltman1, Han G Brunner1 & Bert B A de Vries11
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands. 2
Oxford Genetics Knowledge Park, Wellcome Trust Centre for Human Genetics, Churchill Hospital, Oxford OX3 7BN, UK. 3
Department of Medical Genetics, University of Antwerp, B-2610 Antwerp, Belgium. 4
Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), 94018 Troina, Italy. 5
Institute of Medical Genetics, University of Zurich, CH-8603 Schwerzenbach, Switzerland. 6
Department of Molecular Medicine and Surgery, Karolinska Hospital, S-171 76 Stockholm, Sweden.
Correspondence should be addressed to Bert B A de Vries b.devries@antrg.umcn.nl 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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