Our patient was screened for rhabdoid tumor predisposition syndrome (RTPS), and cytogenetic analysis (Dr J Biegel, Children’s Hospital of Los Angeles) using multiplex-ligation dependent probe amplification (MLPA) in the tumor sample demonstrated a heterozygous deletion of chromosome arm 22q and a homozygous deletion of exons 8–9 of the SMARCB1 gene. The gene discussed is SMARCB1; the disease is familial rhabdoid tumor.