Chromosomal rearrangements, such as chromosome segment inversions, may affect the epigenetic landscape as well as gene expression. Indeed, different kinds of chromosome segment inversions have been ...
The two year old proband has multiple malformations and severe developmental delay. Her karyotype is 46, XY, -9, +rec(9), dup p, inv(9)(q22.1q34.3)mat, with a net duplication of 9pter←q22.1 and ...
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