Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques
(a) Deletion involving chromosome bands 4p16.1-p16.3 was confirmed by microarray mapping of the propositus (▼), his younger sister (▲) and both parents (father (▪) and mother (●)). (b) The affected patients display differential telomeric break points, which occur at a variable region including genes ZNF718 and ZNF595. (c) The centromeric break points in both patients were located >15 kb upstream of the MAN2B2 transcriptional start site (pos. 6576902). Gene (RefSeq) and CNV (DGV) annotation maps are shown below. CNV gain regions are indicated in red, losses in green, and gain/losses in gray. Log2R, logarithmic value of the sample to reference ratio.