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. Author manuscript; available in PMC: 2014 Jan 1.
Published in final edited form as: Am J Med Genet A. 2012 Dec 7;0(1):131–136. doi: 10.1002/ajmg.a.35700

Figure 2. Physical map of the 22q13 deletion locus.

Figure 2

Schematic of 22q13.31-qter (UCSC Genome Browser Mar 2006, chr22:46,000,000–49,691,432) drawn to scale shows deletions associated with normal and abnormal posterior fossa brain imaging. Deletions associated with CBVH+MCM (black) or CBVH (grey) are displayed. The deletion in two probands (LR08-44, LR08-22) extends beyond field of view. RefSeq genes are shown. PLXNB2 or MAPK8IP2 produce developmental cerebellar phenotypes with homozygous loss in mouse. Mutation or deletion of SHANK3 has been associated with autism.