De novo t(5p;21q) in a patient previously diagnosed as monosomy 21.
López-Pajares I, Martin-Ancel A, Cabello P, Delicado A, Garcia-Alix A, San Roman C.
Servicio de Genética Médica, Hospital La Paz, Madrid, Spain.
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.
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PMID: 8448910 [PubMed - indexed for MEDLINE]