A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Koolen DA., Vissers LELM., Pfundt R., de Leeuw N., Knight SJL., Regan R., Kooy RF., Reyniers E., Romano C., Fichera M., Schinzel A., Baumer A., Anderlid B-M., Schoumans J., Knoers NV., van Kessel AG., Sistermans EA., Veltman JA., Brunner HG., de Vries BBA.
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.