Paris-Trousseau syndrome

Paris-Trousseau syndrome
Classification and external resources
OMIM 188025

Paris-Trousseau syndrome (PTS) is an inherited disorder characterized by mild hemorrhagic tendency associated with 11q chromosome deletion.[1] 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 surfeace area and, consequently, its abitlity to spread when necessary.[2]

FLI1 has been suggested as a candidate.[3]

See also

References

  1. Krishnamurti L, Neglia JP, Nagarajan R, et al. (April 2001). "Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome". Am. J. Hematol. 66 (4): 295–9. doi:10.1002/ajh.1061. PMID 11279643.
  2. Sultan, Nasreen; Sharma, S. K. (April 2015). "Platelet Count and Mean Platelet Volume-Key Hematological Indices in Determination of Various Clinical Perspectives-A Review" (PDF). International Journal of Science and Research. 4 (4): 3347–3350. ISSN 2319-7064. SUB154040. Retrieved 28 September 2015.
  3. Raslova H, Komura E, Le Couédic JP, et al. (July 2004). "FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia". J. Clin. Invest. 114 (1): 77–84. doi:10.1172/JCI21197. PMC 437972Freely accessible. PMID 15232614.


This article is issued from Wikipedia - version of the 10/16/2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.