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 ...

Paracentric inversions (PAIs) are structural chromosomal rearrangements generally considered to be harmless. To date, only a few studies have been performed concerning the meiotic segregation of ...