Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2814220 | European Journal of Medical Genetics | 2008 | 10 Pages |
Abstract
We studied a child with apparent monosomy of chromosome 21. Cytogenetic, FISH and microsatellite analyses revealed a 45,X,−21,+der(X)t(X;21)(q25;q21.1) karyotype resulting from a de novo, unbalanced, X;21 non-reciprocal translocation of paternal origin, with partial monosomy of chromosomes 21 and X. An extreme, skewed X-inactivation pattern of the der(X) chromosome was demonstrated. Skewed inactivation probably accounted for a mild phenotype with respect to Xq25 → qter deletion while propagation of inactivation to the adjacent 21q region may account for mild clinical features associated to distal 21q monosomy.
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Authors
Leila C.A. Cardoso, Lúcia Moraes, Maria Jesus E. Camilo, Milene V. Mulatinho, Hilda Ramos, José Carlos C. Almeida, Juan C. Llerena Jr., Héctor N. Seuánez, Fernando R. Vargas,