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. 2011 Aug 2;156(7):808–816. doi: 10.1002/ajmg.b.31225

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Copyright © 2011 Wiley-Liss, Inc.

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FIG. 1 — Rare CNVs in IED and PD. A: A recurrent ∼1.5-Mbp deletion was detected in 1 of 90 individuals with IED (Subject 1). The undefined breakpoints lie within segmental duplications (green) flanking the deleted region. B: A large deletion on 16q22.3–q23.1. This rare deletion was detected in 1 out of 90 subjects diagnosed with IED (Subject 2), which is unreported and remains uncharacterized. The approximately 350-kbp region intersects a total of six genes, including two that are highly expressed in the human nervous system: fatty acid 2-hydroxylase (FA2H) and zinc finger and ring finger protein 1 (ZNRF1). C: A recurrent duplication on 15q13.3. This duplication was identified in 1 out of 23 subjects diagnosed with PD (Subject 3). Currently, it is unclear whether this duplication is pathogenic. The lower panel shows a family pedigree of Subject 3 (arrow) who was diagnosed with PD (checkered) and family members with a history of aggression (solid) and mental retardation (diagonal) are also depicted.