Results: 2

1.
Figure 1

Figure 1. Brain images of patients with 22q13 terminal deletion or SHANK3 mutation. From: Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

T1-weighted midsagittal magnetic resonance images in one control subject, 10 subjects with 22q13 deletion, and one subject with an intragenic mutation of SHANK3 (LR09-90). The upper and lower limits of the vermis are marked by horizontal dashed white lines in each image.

Kimberly A. Aldinger, et al. Am J Med Genet A. ;0(1):131-136.
2.
Figure 2

Figure 2. Physical map of the 22q13 deletion locus. From: Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

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.

Kimberly A. Aldinger, et al. Am J Med Genet A. ;0(1):131-136.

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