| Dysmorphological and pharmacological studies in 4q- syndrome. | |
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MedLine Citation:
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PMID: 21848010 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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The 4q- syndrome includes interstitial and terminal deletions of the long arm of chromosome 4. In this study 22 children with 4q- were evaluated through face-to-face assessments and/or two-dimensional digital photographs. In addition, 15 parents participated in a questionnaire survey regarding pharmacological and other treatments which their affected child received. A high forehead was seen in 73% of index cases and was the only facial feature consistently present in this group. There may be a link between this phenotypic characteristic and the increased incidence of autistic spectrum disorder in 4q deletion syndrome (33%). Two thirds of the subjects were taking long term prescription drugs and/or food supplements. Commonly used nutritional supplements were multivitamins, carnitine, coenzyme Q10 and omega-3 fatty acids. They were well tolerated by the probands but the literature evidence for their specific effectiveness was weak. Twelve out of 15 children had speech and language therapy, occupational therapy or physiotherapy, and 6/15 regularly saw a psychologist. Future 4q- research should focus on gene-phenotype correlations, 3D face analysis and drug treatment to improve global and medical functioning. |
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Authors:
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E M Strehle |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Genetic counseling (Geneva, Switzerland) Volume: 22 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2011 |
Date Detail:
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Created Date: 2011-08-18 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
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Languages: eng Pagination: 173-85 Citation Subset: IM |
Affiliation:
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Institute of Human Genetics, Newcastle Hospitals NHS Foundation Trust and Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. strehle@doctors.org.uk |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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