Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation

MIRAGE syndrome caused by mutations in SAMD9 is associated with potential loss of chromosome 7 (‐7/7q‐) and an increased risk to develop myelodysplastic syndrome (MDS). We report a case of MIRAGE syndrome, caused by a novel SAMD9 mutation p.Leu641Pro, leading to characteristic clinical features as w...

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Veröffentlicht in:	Pediatric blood & cancer 2019-04, Vol.66 (4), p.e27589-n/a
Hauptverfasser:	Csillag, Bernhard, Ilencikova, Denisa, Meissl, Manfred, Webersinke, Gerald, Laccone, Franco, Narumi, Satoshi, Haas, Oskar, Duba, Hans‐Christoph
Format:	Artikel
Sprache:	eng
Schlagworte:	Case reports Chromosome 7 Hematology MIRAGE syndrome Monosomy monosomy 7 Mutation Myelodysplastic syndrome Myelodysplastic syndromes Oncology Pediatrics Remission SAMD9 mutation in mosaic form Uniparental disomy UPD7q
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