We observed a 17-year-old girl affected by velocardiofacial syndrome (VCFS) confirmed by a fluorescence in situ hybridization (FISH) test (DGCR-Oncor Resnova) which has demonstrated a 46,XX del 22q11.2. Blood cell count showed mild thrombocytopenia (93.000 µ L−1) with increased platelet volume (13.8 fL). According to Van Geet et al. [1], this patient may be an obligate carrier for a GpIbβ deletion, and therefore heterozygotic for Bernard Soulier syndrome (BBS). In order to explore this hypothesis, GPIb expression on platelet surface was analyzed initially by flow cytometry in comparison with P-selectin, another membrane protein, using the specific mouse monoclonal antibodies LJ-Ib10 recognizing the 45 kDa aminoterminal domain of GPIbα[2] and WAPS12.2 [3], respectively.
Macrothrombocytopenia in velocardiofacial syndrome
PALLOTTA, Rosanna;BUCCI, INES;SAPONARI, ANITA
2005-01-01
Abstract
We observed a 17-year-old girl affected by velocardiofacial syndrome (VCFS) confirmed by a fluorescence in situ hybridization (FISH) test (DGCR-Oncor Resnova) which has demonstrated a 46,XX del 22q11.2. Blood cell count showed mild thrombocytopenia (93.000 µ L−1) with increased platelet volume (13.8 fL). According to Van Geet et al. [1], this patient may be an obligate carrier for a GpIbβ deletion, and therefore heterozygotic for Bernard Soulier syndrome (BBS). In order to explore this hypothesis, GPIb expression on platelet surface was analyzed initially by flow cytometry in comparison with P-selectin, another membrane protein, using the specific mouse monoclonal antibodies LJ-Ib10 recognizing the 45 kDa aminoterminal domain of GPIbα[2] and WAPS12.2 [3], respectively.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
