Event ID![]() ![]() |
Patient Information: A female patient | ||||
Disease: Mental Retardation Syndrome ( DOID![]() |
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Event Information |
Precision: A![]() |
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Chromosome Rearrangement Type: Reciprocal Translocation![]() |
Chromosome: X, 9 |
Karyotype![]() |
Breakpoints Information: |
First Breakpoint![]() |
Location: q12 |
Exact position: ChrX: 67487583bp |
This breakpoint occurs in intron9 of NM_002547.2. |
Second Breakpoint![]() |
Location: p13.3 |
Exact position: Chr9: 35666616bp |
This breakpoint occurs in an intergenic region |
Junction Sequence(5'): AAAAAACCAGCTCCGTTAGTGCTTTGGGTGGGTGCAAAGAAATCAATGAATCCACACACTGGCAGCATTC |
The Junction Sequence is Inferred![]() |
Note: Green and Blue color indicate 5' and 3' sequence according to the breakpoint. |
Experimental Method: G Banding, FISH, PCR, DNA sequencing |
Reference Information |
PubMed ID: 17845870 | ||||
Authors: Menten B,Buysse K,Vermeulen S,Meersschaut V,Vandesompele J,Ng BL,Carter NP,Mortier GR,Speleman F | ||||
Journal: European journal of medical genetics |
Go to Genome Browser ( Click the image ) |
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