Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant
Beteiligte Einrichtungen
Abstract
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.
Bibliografische Daten
Originalsprache | Englisch |
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ISSN | 1545-5009 |
DOIs | |
Status | Veröffentlicht - 19.04.2016 |
PubMed | 27092963 |
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