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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Jacobsen Distal 11q Deletion Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Jacobsen Distal 11q Deletion Syndrome
Hemic and Lymphatic Diseases > Hematologic Diseases > Blood Platelet Disorders > Thrombocytopenia > Jacobsen Distal 11q Deletion Syndrome

Preferred term

Jacobsen Distal 11q Deletion Syndrome  

Type

  • mesh:Descriptor

Definition

  • 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. A component of Jacobsen Syndrome linked to FLI1 gene at 11q23.

Broader concept

Entry terms

  • 11q Deletion Disorder
  • 11q Deletion Syndrome
  • 11q- Deletion Syndrome
  • 11q Terminal Deletion Disorder
  • Chromosome 11q Deletion Syndrome
  • Jacobsen Syndrome
  • Partial 11q Monosomy Syndrome

Allowable Qualifier(s)

In other languages

  • Syndrome de Jacobsen

    French

  • Délétion 11q terminale
  • Délétion distale 11q
  • PTS (Paris-Trousseau Syndrome)
  • Syndrome de Paris-Trousseau
  • Syndrome Paris-Trousseau
  • Trouble de délétion terminale du chromosome 11q

URI

http://data.loterre.fr/ark:/67375/JVR-B5NJWRD6-9

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RDF/XML TURTLE JSON-LD Created 7/9/07, last modified 6/29/18