Case Report

Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

Figure 1

Chromosomal microarray analysis of Case 1 using the Combimatrix DNAarray Oligo 180 K (Combimatrix Diagnostics, Irvine, CA) showing the location of the deletion on chromosome 15 involving BP1-BP2 (20, 290, 386–20, 633, 303 bp from p terminus using content source from UCSC hg18 human genome (NCBI build 36, March 2006)). Y axis shows the chromosome copy number (0 = normal or nondeletion; −1.0 = deletion from a single chromosome). Genes in the deleted region are CYFIP1, NIPA1, NIPA2, and TUBGCP5.
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