Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression

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...

Full description

Saved in:

Bibliographic Details
Published in:	American journal of medical genetics. Part B, Neuropsychiatric genetics Vol. 141B; no. 3; pp. 214 - 219
Main Authors:	Kolomietz, Elena, Ben-Omran, Tawfeg, Chitayat, David, Mah, Mimi, Murphy, Jillian, Nie, Gloria, Teshima, Ikuko
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 05-04-2006 Wiley-Liss
Subjects:	Adolescent Adult and adolescent clinical studies Biological and medical sciences Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Depression Depressive Disorder - genetics Depressive Disorder - pathology duplication 11q familial chromosomal imbalance Family Health Female Gene Duplication Genetic Predisposition to Disease - genetics Genome, Human Humans In Situ Hybridization, Fluorescence Male Medical sciences Miscellaneous mood disorder Mood disorders Nucleic Acid Hybridization - methods Pedigree Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Recurrence Sequence Analysis, DNA Spectral Karyotyping Chromosomal aberration Mood disorder Relapse familial chromosomal imbalance Association Family study Genomics duplication llq Abnormal chromosome Depression Recurrent Chromosome duplication
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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.
Bibliography:	OAML - No. SGP02-002 istex:ECAF2D61DE638A7DFC959DB15B25B430BFFC685B ark:/67375/WNG-H1041WWK-K ArticleID:AJMG30297 Elena Kolomietz and Tawfeg Ben-Omran contributed equally to this work. Ontario Ministry of Health Laboratory Genetics fellowship Elena Kolomietz and Tawfeg Ben‐Omran contributed equally to this work. ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1552-4841 1552-485X
DOI:	10.1002/ajmg.b.30297