| Symbol
| UPD6P
|
| Location
| 6q24.2
|
| Name
|
chromosome 6 uniparental disomy, paternal |
| Corresponding gene
|
PLAGL1
, HYMAI
|
| Other symbol(s)
| patUPD6, pUPD6, TND
|
| Main clinical features
|
complete or partial UPD6pat including band q24 is associated with transient neonatal diabetes
other features were intrauterine growth retardation and macroglossia |
| Genetic determination
| epigenetic |
|
| chromosomal |
| Related entries
| TNDM
|
| Function/system disorder
| endocrinology |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
|
| uniparental disomy
|
| almost all reported cases of paternal UPD6 are associated with TND
| |
| Remark(s)
|
molecular testing for paternal UPD is indicated in all cases with transient neonatal diabetes (TND) |
| Genotype/Phenotype correlations
|
isodisomy may reveal recessive disorders |