Event ID![]() ![]() |
Patient Information: A female patient | ||||
Disease: Mental Retardation Syndrome ( DOID![]() |
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Event Information |
Precision: B![]() |
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Chromosome Rearrangement Type: Reciprocal Translocation![]() |
Chromosome: 18, 20 |
Karyotype![]() |
Breakpoints Information: |
First Breakpoint![]() |
Location: q21.1 |
This breakpoint occurs in intron3 of NM_0010830962.1. |
Second Breakpoint![]() |
Location: q11.2 |
This breakpoint occurs in intron1 of NM_032221.3. |
Junction Sequence is Unavailable![]() |
Experimental Method: FISH, RT-PCR |
Reference Information |
PubMed ID: 18627065 | ||||
Authors: Kalscheuer VM,Feenstra I,Van Ravenswaaij-Arts CM,Smeets DF,Menzel C,Ullmann R,Musante L,Ropers HH | ||||
Journal: American journal of medical genetics. Part A |
Go to Genome Browser ( Click the image ) |
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