Article
Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion.
Immunopharmacology and immunotoxicology - 1 Dec 2011
Giordano Paola, Cecinati Valerio, Grassi Massimo, Giordani Lucia, De Mattia Delia, Santoro Nicola
Abstract excerpt
We describe a child with thrombocytopenia-absent radius (TAR) syndrome in whom a refractory Langerhans cell histiocytosis (LCH) developed at 9 years. Recently, it has been demonstrated, in a large cohort of patients with TAR syndrome, that microdeletion on chromosome 1q21.1 is the characteristic genetic alteration. This genetic alteration was found in the affected son and in maternal lineage. Our data confirm the...
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