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

DA Koolen, LELM Vissers, R Pfundt, N De Leeuw… - Nature …, 2006 - nature.com
DA Koolen, LELM Vissers, R Pfundt, N De Leeuw, SJL Knight, R Regan, RF Kooy
Nature genetics, 2006nature.com
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.
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.
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