The Chromosome 7 Annotation Project |
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# | Unique ID | Karyotype | Phenotype | Cytogenetic Break From | Cytogenetic Break To | Molecular Breakpoint #1 | Molecular Breakpoint #2 | Pubmed ID | Patient ID | Comments | |
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1 | 19086034 | 46,XY,t(5;18)(q33.1;q12.1)de novo [del(7)(p21.3p21.3), dup(14)(q11.2q11.2), dup(17)(q21.31q21.31) CNV's detected by microarray] | autism, psychomotor retardation, very minor dysmorphic features | p21.3 | p21.3 | 19086034, 15266626 | MCN ID: 20040001-023 | ~19Kb deletion, www.mcndb.org | Edit |