| A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis. | |
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MedLine Citation:
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PMID: 21736959 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Interstitial deletions of chromosome 14 have rarely been described. We report on a boy in whom a 2 Mb deletion in 14q13 was discovered by array CGH. The deletion was a de novo event. The boy presented with asymmetrical growth retardation at birth. There was severe developmental delay with muscular hypotonia and focal epilepsy with apneic episodes progressing to serial tonic seizures. At the age of 3 3/12 years he was diagnosed with pneumonia. In the further course he developed symptoms of hemophagocytic lymphohistiocytosis. He died due to organ failure. Here the clinical findings are compared to patients with cytogenetic visible deletions encompassing the region deleted in the proband and the possible connection with the deleted genes. |
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Authors:
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Almuth Caliebe; Jose I Martin Subero; Hiltrud Muhle; Stefan Gesk; Ute Jänig; Martin Krause; Hansjörg Plendl; Ulrich Stephani; Reiner Siebert; Christel Eckmann-Scholz |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-6-16 |
Journal Detail:
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Title: European journal of medical genetics Volume: - ISSN: 1878-0849 ISO Abbreviation: - Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-7-8 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 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Institut für Humangenetik, Schwanenweg 24, 24105 Kiel, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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