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 translocations and inversions are present in ∼0.6–1% of individuals. Although the majority are inherited, and the familial transmission across generations is well reported, reports of ...

Length and position of breakpoints are characteristics of inversions that can be precisely determined on the polytene chromosomes of Drosophila species, and they provide crucial information about the ...