Simone Cesaro, Director of Pediatric Hematology Oncology Unit at Integrated University Hospital of Verona, shared on LinkedIn:
“Cytogenetic plays a key role in the surveillance of clonal evolution in patients affected by Shwachman-Diamond disease.
Over the last 3 decades, we learnt that the most frequent clonal anomalies are the isochromosome of the long arms of chromosome 7, i(7)(q10), and the interstitial deletion of the long arms of chromosome 20, del(20)(q), which have protective significance.
A report of 27 years of experience by the Italian registry of Shwachman-Diamond disease. Shwachman-Diamond disease clonal evolution Cytogenetics.”
Title: Cytogenetics of Shwachman Diamond syndrome: 27 years report of the Italian cohort and review of the literature
Authors: Giovanni Micheloni, Annalisa Frattini, Giuseppe Montalbano, Marco Cipolli, Emily Pintani, Simone Cesaro, Anna Pegoraro, Antonella Minelli, Cesare Danesino, Francesco Acquati, Giovanni Porta, Francesco Pasquali, Roberto Valli
Read the Full Article on European Journal of Medical Genetics
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