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GENATLAS PHENOTYPE |
last update : 26/07/2006 |
Symbol | DEL18P |
Location | 18p11.31 |
Name | chromosome 18p complete or partial deletions |
Other name(s) | monosomy 18p,18p- syndrome, del(18p) syndrome |
Corresponding gene | TGIF1 |
Main clinical features |
|
Genetic determination | chromosomal |
Prevalence | more than 100 cases reported, female to male ratio 2/1 |
Related entries | HPE4, TGIF |
Function/system disorder | multisystem/generalized |
mental retardation | |
Type | MCA/MR |
Gene product |
Name | contiguous gene syndrome |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
|  
| deletion
| haploinsufficiency
| breakpoint at 18p11.1 or 18p11.2
| |
Remark(s) |