| Symbol
| DEL7Q1123
|
| Location
| 7q11.23
|
| Name
|
chromosome 7q11.23 microdeletion, distally adjacent to WBS common deletion |
| Main clinical features
|
variable expression and/or incomplete penetrance of epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities
Ramocki, 2010 PMID: 21109226 |
| Genetic determination
| chromosomal |
|
| genomic disorder |
| Related entries
| WBS
|
| Function/system disorder
| neurology |
|
| psychiatry disorder |
| Type
| MCA/MR
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
|
| deletion
|
| common recurrent ~1.2 Mb deletion that includes
HIP1 and YWHAG genes and that is flanked by large complex low-copy repeats
| |
| deletion
|
| smaller, nonrecurrent deletions (~180–500 kb) that include HIP1 but not YWHAG suggest that deletion of HIP1 is sufficient to cause neurological disease
| |
| Genotype/Phenotype correlations
|
Three individuals with smaller, nonrecurrent deletions (~180–500 kb) that include HIP1 but not YWHAG suggest
that deletion of HIP1 is sufficient to cause neurological disease |