title: De novo t(5p;21q) in a patient previously diagnosed as monosomy 21.
abstract: In situ hybridization was used to characterize an undetected chromosome translocation in a child whose metaphase chromosome analysis in peripheral blood and in skin culture revealed apparent monosomy 21. The cytogenetic study revealed 45 chromosomes, and no other structural anomalies were detected with G banding. In situ hybridization of chromosome 21-specific probes to metaphase chromosomes and reverse banding from the proband showed a de novo translocation between chromosome 5 and chromosome 21.
authors.affiliation: Servicio de Genética Médica, Hospital La Paz, Madrid, Spain.
authors.forename: I
authors.initials: I
authors.lastname: López-Pajares
authors.forename: A
authors.initials: A
authors.lastname: Martin-Ancel
authors.forename: P
authors.initials: P
authors.lastname: Cabello
authors.forename: A
authors.initials: A
authors.lastname: Delicado
authors.forename: A
authors.initials: A
authors.lastname: Garcia-Alix
authors.forename: C
authors.initials: C
authors.lastname: San Roman
mesh_terms: D002869:Chromosome Aberrations / Q000175:diagnosis*; D002871:Chromosome Banding / Q000379:methods; D025063:Chromosome Disorders; D002891:Chromosomes, Human, Pair 21; D002895:Chromosomes, Human, Pair 5; D003937:Diagnosis, Differential; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D014178:Translocation, Genetic