Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

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.

Oct 22, 2015 · The platelet defect associated with Paris-Trousseau thrombocytopenia and Jacobsen syndrome is caused by an abnormal transcription factor FLI1. FLI1 DNA–binding ETS domain mutations cause bleeding disorders with both autosomal dominant and …

Dec 10, 2011 · Many of the severe congenital thrombocytopenias or platelet dysfunction disorders manifest early in life with bleeding symptoms, including mucosal bleeding such as epistaxis and gum bleeding and increased bruising with or without petechiae.

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

Paris-Trousseau syndrome (PTS) is an inherited disorder characterized by mild hemorragic tendency associated with 11q chromosome deletion. Here we report ten new patients (5 boys, 5 girls) with complete clinical history, biological data, ultra-structural and molecular investigations.

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

Jun 29, 2017 · Paris-Trousseau syndrome (Mendelian inheritance in man 188025) is a congenital platelet disorder encountered in most patients with Jacobsen syndrome (Mendelian inheritance in man 147791), a rare, inherited disorder characterized by skull dysmorphism, developmental delay, and multiple organ abnormalities.

Jun 4, 2022 · Paris-Trousseau thrombocytopenia or Paris-Trousseau syndrome is a congenital disorder caused by partial deletions of 11q23 gene accompanied by developmental abnormalities, cardiac and gastrointestinal defects and dysmorphic facial features.

Dec 14, 2023 · Paris-Trousseau syndrome (PTS), also known as Jacobsen syndrome, is a rare genetic disorder characterized by a range of physical and developmental abnormalities. It was first described in 1995 by Dr. Jean-Pierre Paris and Dr. Pierre Trousseau, hence its name.