Event ID : 10341 ( Case ID : 10607 ) |
| Symptom: Freckling,Lisch nodules,Neurofibromas,Macrocephaly,Facial dysmorphism |
|
| Precision: C |
| Chromosome Rearrangement Type: Deletion |
| Karyotype : del(17)(q11.2q11.2) |
| First Breakpoint : |
| Second Breakpoint : |
| Length of Deletion Segment is 13.5MB. |
| Junction Sequence is Unavailable . |
| Experimental Method: FISH |
| PubMed ID: 10631140 |
| Authors: Riva P,Corrado L,Natacci
F,Castorina P,Wu BL,Schneider GH,Clementi M,Tenconi R,Korf BR,Larizza
L |
| Journal: American journal of human
genetics |
Go to Genome Browser ( Click the image ) |