Symbol
| DEL15Q14
|
Location
| 15q13q14
|
Name
|
chromosome 15q14 deletion |
Other name(s)
|
15q14 monosomy |
Corresponding gene
|
MEIS2
|
Main clinical features
|
developmental delay/mental retardation, speech and language disorder,
cleft palate/bifid uvula,
congenital heart defect (PFO or ASD),
mild dysmorphic features |
Genetic determination
| chromosomal |
Function/system disorder
| multisystem/generalized |
Type
| MCA/MR
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
 
| deletion
|  
| cytogenetically visible,variable size
|  
| deletion
|  
| submicroscopic, 4.2 to 9 Mb with overlapping deleted region encompassing about 20 genes
| |
Remark(s)
|
MEIS2 is a candidate gene for cleft palate and cardiac septal defects |