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Detection of abnormal karyotypes with associated clinical manifestations is an important tool for the identification of genes that confer susceptibility to genetic disorders. We present a family with a duplication 11q14.1–q22.1 resulting from an unbalanced familial insertion, associated with a mild dysmorphic phenotype and mood disorders, mainly major depression. This relatively large duplication of a segment from chromosome 11 is associated with a surprisingly little physical phenotypic effect in this family. The finding of mood disorders in adult members of the family who carry the insertion supports the view that the duplication may be important for the identification of contributing gene(s) to mood disorders. Major depression is considered to be a complex trait with multiple genetic alterations interacting with environmental factors. Array‐based comparative genome hybridization (array CGH) analysis with a 1 Mb genomic array, defined the duplication region that extended over 16 Mb from 11q14.1 to 11q22.1. Brain‐expressed genes that map within this 16 Mb region, are considered worthy of further investigation as gene(s) contributing to the etiology of major depression. © 2006 Wiley‐Liss, Inc.
American Journal of Medical Genetics part B – Wiley
Published: Apr 5, 2006
Keywords: duplication 11q; mood disorder; familial chromosomal imbalance
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