DGDP # | 041 III-2 |
---|---|
Gender | F |
Year of Birth | 2005 |
Karyotype | del(1)(q21), del(7)(q11.22) |
Phenotype | Persistent hematuria, chronic constipation, gastroenteritis, primary hypothyroidism, extremely short stature/ failure to thrive, developmental articulation disorder |
Notes | - Sister of DGDP 041 III-1 -Del(1) size: 1.2 Mb -Del(7) size: 68kb |
LBL | Yes |
DNA | Yes |