For instance, deletions that span a centromere result in an acentric chromosome that will most likely be lost during cell division. As with duplications, deletions can affect gene dosage and thus ...

Large and rare duplications and deletions in a chromosome region known as ... were identified in 7.4% of early-onset bicuspid ...

We present a 7-year-old boy with a long history of multiple ... XXY karyotype with concurrent duplication of 3p21.31 by microarray analysis. Maternal genetic analysis demonstrated the same 3p21.31 ...

The DNA-based NF1/SPRED1-only by NGS involves sequencing as well as deletion/duplication analysis of the entire coding NF1/SPRED1 regions plus the alternatively spliced NF1 exons 9br, 23a and 48a (67 ...