1.
Pediatr Blood Cancer
; 63(8): 1451-3, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27092963
RESUMO
We report the successful use of multiplex ligation-dependent probe amplification (MLPA) to detect heterozygous loss of SMARCB1/INI1/SNF5 in the germ line of an infant with a huge posterior fossa tumor. MLPA and Sanger sequencing of the SMARCB1 gene in the germ line may be useful for the initial diagnosis in a defined subgroup of infants with rhabdoid tumors, in which biopsies cannot be performed.