Table 5.

Classification of congenital thrombocytopenia based on inheritance pattern


Autosomal dominant

Autosomal recessive

X-linked
May-Hegglin anomaly   Congenital amegakaryocytic thrombocytopenia (CAMT)   Wiskott-Aldrich syndrome  
Fechtner syndrome    
Epstein syndrome   Thrombocytopenia and absent radii (TAR)   X-linked thrombocytopenia  
Sebastian syndrome    
Mediterranean thrombocytopenia/Bernard-Soulier carrier   Bernard-Soulier syndrome  GATA1 mutation  
Velocardiofacial/DiGeorge syndrome    
Familial platelet disorder/acute myeloid leukemia    
Chromosome 10/THC2    
Paris-Trousseau thrombocytopenia/Jacobsen syndrome    
Gray platelet syndrome    
Thrombocytopenia and radial synostosus
 

 

 

Autosomal dominant

Autosomal recessive

X-linked
May-Hegglin anomaly   Congenital amegakaryocytic thrombocytopenia (CAMT)   Wiskott-Aldrich syndrome  
Fechtner syndrome    
Epstein syndrome   Thrombocytopenia and absent radii (TAR)   X-linked thrombocytopenia  
Sebastian syndrome    
Mediterranean thrombocytopenia/Bernard-Soulier carrier   Bernard-Soulier syndrome  GATA1 mutation  
Velocardiofacial/DiGeorge syndrome    
Familial platelet disorder/acute myeloid leukemia    
Chromosome 10/THC2    
Paris-Trousseau thrombocytopenia/Jacobsen syndrome    
Gray platelet syndrome    
Thrombocytopenia and radial synostosus
 

 

 
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