De novo t(5p;21q) in a patient previously diagnosed as monosomy 21.
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.
López-Pajares
I
I
Servicio de Genética Médica, Hospital La Paz, Madrid, Spain.
Martin-Ancel
A
A
Cabello
P
P
Delicado
A
A
Garcia-Alix
A
A
San Roman
C
C
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