Jacobsen Distal 11q Deletion Syndrome [Jacobsenův syndrom]
- Terms
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Jacobsenův syndrom - distální mikrodelece 11q
mikrodelece 11q
mikrodelece distálního konce dlouhého raménka chromozómu 11
Parisův-Trousseauův syndrom
Parisův-Trousseauův typ trombocytopenie
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11q Deletion Disorder
11q Deletion Syndrome
11q Terminal Deletion Disorder
11q- Deletion Syndrome
11q23 Deletion Disorder
Chromosome 11q Deletion Syndrome
Jacobsen Syndrome
Jacobsen Thrombocytopenia
Paris-Trousseau Syndrome
Paris-Trousseau Thrombocytopenia
Partial 11q Monosomy Syndrome
Thrombocytopenia, Paris-Trousseau Type
A clinically recognized congenital 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. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia.
- DUI
- D054868 MeSH Browser
- CUI
- M0508419
- Previous indexing
- Chromosomes, Human, Pair 11 (1986-2007)
- History note
- 2008
- Public note
- 2008
Allowable subheadings
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