| Micro-duplications of 1q32.1 associated with neurodevelopmental delay. | |
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MedLine Citation:
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PMID: 22266072 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Distal partial trisomies involving the region 1q32 have been associated with dysmorphic features and developmental delay [1-11]. To further define the critical region for developmental delay and to investigate the genotype-phenotype association of 1q trisomy syndrome, we report two patients with much smaller (3 Mb and 3.5 Mb in size) trisomic regions on 1q32.1. The two micro-duplications largely overlap and both patients exhibited cognitive and motor delays. Case 1 is a 5-year-old boy with global developmental delay, behavioral problems, pervasive developmental disorder not otherwise specified (PDD-NOS), staring spells, headaches, and paresthesias. Case 2 is a 14-year-old girl with seizures, cognitive and motor difficulties, and minor dysmorphic features. These two cases suggest that 1q32.1 region on distal arm of 1q and genes involved are critical to cognitive and motor development in a gene dosage sensitive manner and that other neurological features are variable within this syndrome. |
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Authors:
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H E Olson; Y Shen; A Poduri; M P Gorman; K A Dies; M Robbins; R Hundley; B Wu; M Sahin |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-1-2 |
Journal Detail:
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Title: European journal of medical genetics Volume: - ISSN: 1878-0849 ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2012-1-23 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011. Published by Elsevier Masson SAS. |
Affiliation:
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Department of Neurology, Children's Hospital Boston, Boston, MA 02115, USA; Harvard Medical School, Boston, MA, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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