| Complete maternal uniparental isodisomy of chromosome 4 in a subject with major depressive disorder detected by high density SNP genotyping arrays. | |
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MedLine Citation:
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PMID: 16331669 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Uniparental isodisomy (iUPD) is a rare genetic condition caused by non-disjunction during meiosis that ultimately leads to a duplication of either the maternal or paternal chromosome in the affected individual. Two types of disorders can result, those due to imprinted genes and those due to homozygosity of recessive disease-causing mutations. Here, we describe the third known case of complete chromosome 4 iUPD of maternal origin. This condition became apparent during whole genome linkage studies of psychiatric disorders in the Portuguese population. The proband is an adult female with normal fertility and no major medical complaints, but a history of major depressive disorder and multiple suicide attempts. The proband's siblings and parents had normal chromosome 4 genotypes and no history of mood disturbance. A brief review of other studies lends support for the possibility that genes on chromosome 4 might confer risk for mood disorders. We conclude that chromosome 4 maternal uniparental disomy (UPD) is a rare disorder that may present with a major depressive phenotype. The lack of a common disease phenotype between this and two other cases of chromosome 4 iUPD [Lindenbaum et al. [1991] Am J Med Genet 49(Suppl 285):1582; Spena et al. [2004] Eur J Hum Genet 12:891-898) would suggest that there is no vital maternal gene imprinting on chromosome 4. However, since there is no reported case of paternal chromosome 4 UPD, paternal gene imprinting on chromosome 4 cannot be excluded. |
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Authors:
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Frank A Middleton; Marco G Trauzzi; Antony E Shrimpton; Karen L Gentile; Christopher P Morley; Helena Medeiros; Michele T Pato; Carlos N Pato |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics Volume: 141B ISSN: 1552-4841 ISO Abbreviation: Am. J. Med. Genet. B Neuropsychiatr. Genet. Publication Date: 2006 Jan |
Date Detail:
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Created Date: 2006-01-03 Completed Date: 2006-03-28 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235742 Medline TA: Am J Med Genet B Neuropsychiatr Genet Country: United States |
Other Details:
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Languages: eng Pagination: 28-32 Citation Subset: IM |
Copyright Information:
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(c) 2005 Wiley-Liss, Inc. |
Affiliation:
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Department of Neuroscience & Physiology, SUNY Upstate Medical University, Syracuse, NY, USA. |
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Chromosomes, Human, Pair 4 / genetics* Depressive Disorder, Major / genetics* Female Genotype Humans Male Mothers Pedigree Polymorphism, Single Nucleotide* Uniparental Disomy* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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