Article
Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21
Registro en:
CARDOSO, Leila C. A. et al. Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 2. Eur. j. med. genet., Paris, v. 51, n. 6, p. 588-597, dec. 2008.
:10.1016/j.ejmg.2008.06.008
Autor
Camilo, Maria Jesus E.
Mulatinho, Milene V.
Ramos, Hilda
Almeida, José Carlos C.
Llerena Junior, Juan Clinton
Seuánez, Héctor N.
Vargas, Fernando R.
Cardoso, Leila C. A.
Moraes, Lúcia
Resumen
INCA, FIOCRUZ, CAPES 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.