The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- Search Results

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 20414355; 18475318 46,XY,t(7;16)(p22;p11.2)de novo autism, psychomotor retardation, frequent crying, sleep disturbances, brain CT scan revealed cerebellar megacysterna in posterior fossa and temporal arachnoidal cyst p22.1   RP11-152I5 RP11-730B22 20414355; 18475318   discussion of Q6NUR6 (RNF216L) as candidate gene Edit