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Jacobsen Distal 11q Deletion Syndrome

"Jacobsen Distal 11q Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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A clinically recognized malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Most patients have a THROMBOCYTOPENIA and platelet dysfunction known also as Paris-Trousseau type thrombocytopenia.


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This graph shows the total number of publications written about "Jacobsen Distal 11q Deletion Syndrome" by people in this website by year, and whether "Jacobsen Distal 11q Deletion Syndrome" was a major or minor topic of these publications.
Bar chart showing 2 publications over 2 distinct years, with a maximum of 1 publications in 2008 and 2009
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