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GENATLAS PHENOTYPE |
last update : 21-11-2012 |
Symbol | DEL9P |
Location | 9p22p24 |
Name | chromosome 9p distal deletion |
Other name(s) | monosomy 9p, Alfi syndrome |
Corresponding gene | CER1 , FOXD4 , DOCK8 |
Other symbol(s) | DEL9P, 9p- |
Main clinical features |
|
Genetic determination | chromosomal |
Function/system disorder | multisystem/generalized |
mental retardation | |
Type | MCA/MR |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
|  
| deletion
|  
| visible deletion of variable size, usually terminal
|  
| translocation
|  
| unbalanced, derivative 9 with associated variable trisomy
| |
Remark(s) | ; |
Genotype/Phenotype correlations | two critical regions are suggested, one in p23 between 11.8 and 16 Mb from 9pter, the other < 2Mb of 9pter ; CER1 was suggested as a functional candidate gene for trigonocephaly, but not confirmed; FOXD4 is a candidate genes for speech defects, DOCK8 for mental retardation; deletion of DMRT genes alone is not sufficient to cause sex-reversal |