Article
Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.
European journal of medical genetics - 1 Jan 2000
Piovani Giovanna, Borsani Giuseppe, Bertini Valeria, Kalscheuer Vera M, Viertel Petra, Bellotti Daniela, Valseriati Daniela, Barlati Sergio
Abstract excerpt
Interstitial deletions and pericentric inversions of chromosome 4 appear to be unusual phenomena. Here, we report the case of a 14-year-old boy with severe psychomotor retardation with a de novo 46,XY,der(4)del(p15.2p15.31)inv(4)(p15.2q13.3)del(4)(q13.2q13.2) karyotype. We used FISH analysis with YAC and BAC clones to characterise the inversion's breakpoints. A complex event with six breakpoints was found,...
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