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Molecular Characterization and Clinical Features of a Patient With an Interstitial Deletion of 3p25.3-p26.1
Linköping University, Department of Clinical and Experimental Medicine. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Centre for Laboratory Medicine, Department of Clinical Pathology and Clinical Genetics.
Linköping University, Department of Clinical and Experimental Medicine, Pediatrics. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Centre of Paediatrics and Gynecology and Obstetrics, Department of Paediatrics in Linköping.
2010 (English)In: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, Vol. 152A, no 12, 3110-3114 p.Article in journal (Refereed) Published
Abstract [en]

Distal chromosome 3p deletions (3p- syndrome) are associated with various developmental defects. The majority of cases have a terminal deletion of the short arm of chromosome 3 with loss of either the maternal or the paternal copy. A girl with an interstitial molecularly characterized 1.6 Mb deletion in cytoband 3p25.3-26.1 of the paternal chromosome 3 is presented. To our knowledge, she possesses the smallest deletion that has ever been reported for a patient with a clinical phenotype in accordance with the 3p- syndrome. The boundaries of the deletion lies within nearly all previously reported terminal deletions causing this syndrome. Selected genes that are present in the hemizygous state and which might be important for the phenotype of this patient as regards the congenital heart defect, autistic behavior and mental retardation (CAV3, OXTR, and SRGAP3/MEGAP, respectively) are discussed in context of the clinical features.

Place, publisher, year, edition, pages
John Wiley and Sons, Ltd , 2010. Vol. 152A, no 12, 3110-3114 p.
Keyword [en]
3p deletion syndrome, interstitial deletion, SNP array
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:liu:diva-64244DOI: 10.1002/ajmg.a.33353ISI: 000285251800026OAI: oai:DiVA.org:liu-64244DiVA: diva2:388109
Available from: 2011-01-17 Created: 2011-01-17 Last updated: 2011-01-17

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Gunnarsson, CeciliaFoyn Bruhn, Cathrine

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Gunnarsson, CeciliaFoyn Bruhn, Cathrine
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Department of Clinical and Experimental MedicineFaculty of Health SciencesDepartment of Clinical Pathology and Clinical GeneticsPediatricsDepartment of Paediatrics in Linköping
Medical and Health Sciences

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