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Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association
Author(s) -
McDonald Sharon,
Wilson David B.,
Pumbo Elena,
Kulkarni Shashikant,
Mason Philip J.,
Else Tobias,
Bessler Monica,
Ferkol Thomas,
Shenoy Shalini
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22283
Subject(s) - dyskeratosis congenita , medicine , hyperpigmentation , telomere , monosomy , dermatology , pathology , genetics , karyotype , gene , biology , chromosome
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 genetic basis of IMAGe association is unknown, although mice harboring a mutation in a telomere maintenance gene, Tpp1 , have adrenal hypoplasia congenita. We considered the possibility that this patient has a defect in telomere function resulting in features of both DC and IMAGe association. Pediatr Blood Cancer 2010; 54:154–157. © 2009 Wiley‐Liss, Inc.