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. Author manuscript; available in PMC: 2010 Jan 25.
Published in final edited form as: Dev Disabil Res Rev. 2008;14(1):11–18. doi: 10.1002/ddrr.3

Fig. 4.

Fig. 4

Graphical representation of HDMLPA data. Shown above the representation of chromosome 22 are the FISH probes (cosmids) used in the laboratory designated either by cosmid address or locus name. The MLPA probes (orange rectangles, existing MLPA PO23 loci; yellow rectangles, new MLPA loci) are shown in map order based upon data derived from the UCSC genome browser. All MLPA loci were tested in all samples. Copy number for MLPA probes is indicated by color (grey = disomic, 2 copies; red = hemizygous deletion). The 22q11.2 deletions studied are shown as samples 1–10: (1,2) CH99-023 and CH02-125 with 3 Mb LCR-A to LCR-D deletions. Patient 2 has an extended deletion. (3,4) CH06-198, DO6-231 with LCR-B to LCR-D deletions. (5,6) 06-006997 and 07000363 with a distal variant of LCR-B to LCR-D deletions. (7) 06-006837 an atypical deletion. (8) 06-004115 a LCR-C to LCR-D deletion. (9) CH98-018 a LCR-D to LCR-E deletion, (10) 07-0000553 a LCR-D to LCR-F deletion.