DGDP # | 108 |
---|---|
Gender | M |
Year | 2007 |
Karyotype | dup(5)(p12) |
Phenotype | Speech and global delay, increased eosinophils, change on collagen 6, sensory and texture issues, severe reflux, difficulty walking, 45 degree scoliosis, low muscle tone, Esotropia, constpiation, patent foramen ovale |
Notes | Dup(5) size: 282 kb |
LBL | Yes |
DNA | Yes |