Paris-Trousseau syndrome

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Paris-Trousseau syndrome
Other namesParis-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.[4]

FLI1 has been suggested as a candidate.[5]

See also[edit]

References[edit]

  1. ^ "Paris-Trousseau thrombocytopenia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 15 March 2019.
  2. ^ "OMIM Entry - # 188025 - THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT". omim.org. Retrieved 15 March 2019.
  3. ^ 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.
  4. ^ 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.
  5. ^ 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 437972. PMID 15232614.

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Classification
External resources