DGDP # | 112 IV-2 |
---|---|
Gender | M |
Year of Birth | 2007 |
Karyotype | del(17)(q13.3) |
Phenotype | Miller-Dieker syndrome; microcephaly; evident choreoathetoid movement; developmental delay; upper respiratory infections; seizures; scoliosis; right testicle removed at age 1 |
Notes | Del(17) size: 1.3 Mb |
LBL | Yes |
DNA | Yes |