Article
Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association.
Pediatric blood & cancer - 1 Jan 2010
McDonald Sharon, Wilson David B, Pumbo Elena, Kulkarni Shashikant, Mason Philip J, Else Tobias, Bessler Monica, Ferkol Thomas, Shenoy Shalini
Abstract excerpt
We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, skin hyperpigmentation, and chronic lung disease. Some of his clinical manifestations were suggestive of dyskeratosis congenita (DC), while other features resembled IMAGe association. DC has been linked to mutations in telomere maintenance genes. The...
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