DGDP # | 002 |
---|---|
Gender | F |
Year of Birth | 2007 |
Karyotype | inv(18)(q21.3q22.2) |
Phenotype | Delayed milestones, plagiocephaly, astigmatism, irregular myopie, intermittent exotropia, GERD, brain malformation, cerebral palsy |
Notes | FISH - Vera, normal |
LBL | Yes |
DNA | Yes |