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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.

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.


This graph shows the total number of publications written about "Jacobsen Distal 11q Deletion Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Jacobsen Distal 11q Deletion Syndrome" was a major or minor topic of these publication.
Bar chart showing 1 publications over 1 distinct years, with a maximum of 1 publications in 2009
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.