 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.
| Descriptor ID |
D054868
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| MeSH Number(s) |
C15.378.140.855.440 C16.131.260.440 C16.320.180.440
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| Concept/Terms |
Jacobsen Distal 11q Deletion Syndrome- Jacobsen Distal 11q Deletion Syndrome
- 11q Deletion Disorder
- Deletion Disorder, 11q
- Disorder, 11q Deletion
- 11q Deletion Syndrome
- 11q- Deletion Syndrome
- Paris-Trousseau Syndrome
- Paris Trousseau Syndrome
- Syndrome, Paris-Trousseau
- Chromosome 11q Deletion Syndrome
- Partial 11q Monosomy Syndrome
- 11q Terminal Deletion Disorder
- Jacobsen Syndrome
- Syndrome, Jacobsen
Paris-Trousseau Thrombocytopenia- Paris-Trousseau Thrombocytopenia
- Paris Trousseau Thrombocytopenia
- Thrombocytopenia, Paris-Trousseau
- 11q23 Deletion Disorder
- Deletion Disorder, 11q23
- Disorder, 11q23 Deletion
- Jacobsen Thrombocytopenia
- Thrombocytopenia, Jacobsen
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Below are MeSH descriptors whose meaning is more general than "Jacobsen Distal 11q Deletion Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Jacobsen Distal 11q Deletion Syndrome".
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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2008 | 1 | 0 | 1 | | 2009 | 1 | 0 | 1 |
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Below are the most recent publications written about "Jacobsen Distal 11q Deletion Syndrome" by people in Profiles.
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Di Paola J. Paris-Trousseau: evidence keeps pointing to FLI1. Blood. 2015 Oct 22; 126(17):1973-4.
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Ye M, Coldren C, Liang X, Mattina T, Goldmuntz E, Benson DW, Ivy D, Perryman MB, Garrett-Sinha LA, Grossfeld P. Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. Hum Mol Genet. 2010 Feb 15; 19(4):648-56.
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Coldren CD, Lai Z, Shragg P, Rossi E, Glidewell SC, Zuffardi O, Mattina T, Ivy DD, Curfs LM, Mattson SN, Riley EP, Treier M, Grossfeld PD. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). Neurogenetics. 2009 Apr; 10(2):89-95.
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