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 11241468 46, XY, t(2;7)(p14;q21.11) de novo CHARGE syndrome: bilateral choanal atresia, absence of semicircular canals, hypoplastic cochleae, genital hypoplasia, growth and developmental delays, cranial nerve dysfunction, facial anomalies q21.11   CHARGE   11241468, 15235037 CZ breakpoint (CHARGE) is localized in Y19188 (ACZ) , ~200kb downstream of SEMA3E Edit