Figure 2
(a) Physical map of the 6p25 terminal region with the 200 kb interstitial deletion shown in white. The arrow indicates the deletion breakpoint described by Anderlid et al1 at ∼1.8 Mb, according to the UCSC Genome Browser on Human, May 2004 Assembly. The position of the MLPA probes, sequence-tagged-sites (STSs) and FISH clones is depicted schematically by circles, squares and triangles, respectively. These symbols are either blackened or unblackened indicating the presence or absence of the probe, marker or clone. The localisation of the FISH probes used (GS-196-I5 and GS-62-L11) is indicated by the sequence-tagged-site (STS), 6PTEL48 in the probes, as described by Knight et al.7 All MLPA probes, and the STS markers are positioned according to the UCSC Genome Browser, May 2004. (b) Array CGH results, showing the detailed positioning of the BAC clones at the 6p telomere. The BAC clone RP11-328C17 (unblackened) is deleted in our patient, whereas the other clones at 6pter are present (blackened). BAC clone positions were adjusted/reassigned based on alignment of its sequence to the May 2004 release of the UCSC Genome Browser.
