Paris-Trousseau syndrome explained
| Paris-Trousseau syndrome |
| Synonyms: | Paris-Trousseau thrombocytopenia[1] |
Paris-Trousseau syndrome (PTS) is an inherited disorder characterized by mild hemorrhagic tendency associated with 11q chromosome deletion.[2] [3] It manifests as a granular defect within an individual's platelets. It is characterized by thrombocytes with defects in α-granule components which affects the cell's surface area and, consequently, its ability to spread when necessary.
FLI1 has been suggested as a candidate.[4]
See also
Notes and References
- Web site: Paris-Trousseau thrombocytopenia Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . rarediseases.info.nih.gov . 15 March 2019.
- Web site: OMIM Entry - # 188025 - THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT . omim.org . 15 March 2019.
- Krishnamurti L, Neglia JP, Nagarajan R, etal . Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome . Am. J. Hematol. . 66 . 4 . 295–9 . April 2001 . 11279643 . 10.1002/ajh.1061 . 20979492 . free .
- Raslova H, Komura E, Le Couédic JP, etal . FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia . J. Clin. Invest. . 114 . 1 . 77–84 . July 2004 . 15232614 . 437972 . 10.1172/JCI21197 .
