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Table 1 List of the additional copy number variations (CNVs) identified in the family.

From: Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

Case CNV's coordinates Size (Kbs) Gain/Loss Parental origin Presence in DGV*
Patient Chr1:246,713,074-247,409,060 696 Gain maternal partially
  Chr2: 89,135,619-89,534,147 398.5 Loss maternal yes
Brother Chr1:246,713,074-247,409,060 696 Gain maternal partially
  Chr2: 89,135,619-89,312,590 177 Loss paternal yes
Father Chr2: 246,713,074-89,312,590 177 Loss unknown yes
Mother Chr1:16,927,124-17,253,438 326.3 Gain unknown yes
  Chr1:104,107,589-104,211,056 103.5 Gain unknown yes
  Chr1:246,713,074-247,409,060 696 Gain unknown partially
  Chr2: 89,135,619-89,534,147 398.5 Loss unknown yes
  Chr4:160,294,949-160,578,715 283.8 Loss unknown no
  1. * Database of Genomic Variants (http://projects.tcag.ca/variation, build 37.1, Feb 2009)
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172