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 ...
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 ...
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