“…3 ), (5) the euchromatic region overlaps multiple large CNVs in the Database of Genomic Variants (http://projects.tcag.ca/variation/) ( fig. 3 ), (6) heterochromatic variation does not normally have any phenotypic effect, (7) a heterochromatic position effect seems unlikely [Barber et al, 2006], and (8) analogous pseudo-dicentric variants of chromosome 9 have also been found in the normal sister [Lukusa et al, 2000], father, and grandparent of children ascertained with phenotypic abnormalities [Goumy et al, 2005]. It is therefore important to distinguish this EV from the pathogenic duplications of proximal 16q in which segments from bands 16q12.1 to 16q13 are found within the heterochromatic block of chromosome 16 and are associated with developmental delay, speech delay, learning difficulties, and behavioral problems ( fig.…”