Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

<table> (a) Deletion involving chromosome bands 4p16.1-p16.3 was confirmed by microarray mapping of the propositus (<i>▼</i>), 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 <i>ZNF718</i> and<i> ZNF595</i>. (c) The centromeric break points in both patients were located &gt;15 kb upstream of the <i>MAN2B2</i> 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.</table>

BioMed Research International

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Figure 3: Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques 

Figure 3 | Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques 