Symbol
| DUP11QP
|
Location
| 11q13.3
|
Name
|
chromosome 11q proximal duplication |
Other name(s)
|
proximal trisomy 11q |
Corresponding gene
|
FGF3
, FGF4
|
Main clinical features
|
developmental delay
complex craniosynostoses
congenital heart defects |
Genetic determination
| chromosomal |
Prevalence
| < 5 cases reported
|
Function/system disorder
| mental retardation |
| multisystem/generalized |
Type
| MCA/MR
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
 
| duplication
| over-expression
| overlapping region of less than 1.2Mb including genes FGF3 and FGF4
| |