| Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients. | |
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MedLine Citation:
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PMID: 20503314 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on the results of an array comparative genomic hybridization (array CGH) study of 150 karyotypically normal Finnish patients with idiopathic mental retardation and/or dysmorphic features and/or malformations. Using high-resolution microarray analysis, we sought to identify clinically relevant microdeletions and microduplications in these patients. The results were confirmed using other methods and compared with findings reported in recent publications and internet databases. Small aberrations of potential clinical significance were found in 28 (18.6%) of the 150 patients. Eight of the identified aberrations are known to cause syndromes, 4 affected the X chromosome in males, 4 were familial, and 13 have yet to be associated with a phenotype. This study demonstrates the benefits of array CGH in clinical diagnostics of developmental disorders. Further, our findings give evidence of new syndromes. |
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Authors:
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Linda Siggberg; Sirpa Ala-Mello; Elisa Jaakkola; Esa Kuusinen; Robert Schuit; Jürgen Kohlhase; Detlef Böhm; Jaakko Ignatius; Sakari Knuutila |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-26 Completed Date: 2010-08-30 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1398-410 Citation Subset: IM |
Copyright Information:
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(c) 2010 Wiley-Liss, Inc. |
Affiliation:
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Department of Pathology, Haartman Institute, University of Helsinki, Helsinki, Finland. linda.siggberg@helsinki.fi |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool Chromosomes, Human, X / genetics Comparative Genomic Hybridization / methods* Female Finland Gene Duplication Humans Infant Male Mental Retardation / diagnosis*, genetics Oligonucleotide Array Sequence Analysis / methods* Sequence Deletion |
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