Event ID![]() ![]() |
Patient Information: A 4.5-year-old boy | ||||
Disease: 22q13.3 Deletion Syndrome All events related to this disease. | ||||
Event Information |
Precision: A![]() |
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Chromosome Rearrangement Type: Reciprocal Translocation![]() |
Chromosome: 12, 22 |
Karyotype![]() |
Breakpoints Information: |
First Breakpoint![]() |
Location: q24.1 |
Exact position: Chr12: 105592850bp |
This breakpoint occurs in intron10 of NM_018171. |
Second Breakpoint![]() |
Location: q13.3 |
Exact position: Chr22: 51159484bp |
This breakpoint occurs in exon21 of NM_001080420. |
Junction Sequence(5'): AAAACTCTGCCCTGAA |
Junction Sequence(3'): CGGTGTCTGCCGTCAGTGG |
The Junction Sequence is Inferred![]() |
Note: Green and Blue color indicate 5' and 3' sequence according to the breakpoint. |
Experimental Method: Southern blot, FISH, PCR, DNA sequencing |
Reference Information |
PubMed ID: 11431708 | ||||
Authors: Bonaglia MC,Giorda R,Borgatti R,Felisari G,Gagliardi C,Selicorni A,Zuffardi O | ||||
Journal: American journal of human genetics |
Go to Genome Browser ( Click the image ) |
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