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GENATLAS PHENOTYPE |
last update : 26/10/2005 |
Symbol | DEL7Q36 |
Location | 7q36.3 |
Name | chromosome 7q36 terminal deletion |
Other name(s) | monosomy 7q36 |
Corresponding gene | SHH , MNX1 |
Main clinical features |
|
Genetic determination | chromosomal |
Function/system disorder | mental retardation |
multisystem/generalized | |
Type | MCA/MR |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
|  
| deletion
|  
| subtle or submicroscopic 7q36 deletion including SHH and HLXB9 genes
|  
| translocation
|  
| unbalanced translocation with associated trisomy for another chromosome
|  
| ring
|  
| with terminal 7q36 deletion
| |
Remark(s) | more frequently reported terminal 7q deletions involved region 7q32-qter |
Genotype/Phenotype correlations | an interstitial juxtasubtelomeric q36.1q36.2 deletion with long QT syndrome, renal hypoplasia, common facial gestalt and mental retardation has also been described |