- 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.
- Publisher copy:
- Copyright date:
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
If you are the owner of this record, you can report an update to it here: Report update to this record