eISSN: 1644-4124
ISSN: 1426-3912
Central European Journal of Immunology
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SCImago Journal & Country Rank
3/2007
vol. 32
 
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abstract:

Clinical immunology
Bernard-Soulier syndrome in three siblings with a supernumerary small marker chromosome

Ewa Nita
,
Lech Konopka
,
Ksenia Bykowska
,
Krystyna Maślanka
,
Stanisław Łopaciuk
,
Zdzisława Traczyk
,
Renata Woroniecka
,
Barbara Pieńkowska-Grela

Centr Eur J Immunol 2007; 32 (3): 129-133
Online publish date: 2007/09/10
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The Bernard-Soulier syndrome (BSS) is a rare congenital bleeding disorder, inherited in an autosomal recessive manner. It is caused by an impaired synthesis or dysfunction of platelet glycoprotein Ib/IX/V complex, which functions as receptor for the von Willebrand factor and thrombin. This paper describes a Polish family with BSS. In three siblings, two symptomatic and one asymptomatic, thrombocytopenia with giant platelets, impaired aggregation to ristocetin and impaired Ib/IX/V complex was diagnosed. Additionally, in each of these three persons, karyotype analysis performed on peripheral blood lymphocytes showed a mosaic presence of supernumerary small marker chromosome (sSMC).
keywords:

Bernard-Soulier syndrome, Ib/IX/V glycoprotein complex, supernumerary small marker chromosome

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