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Article

Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres

10 Mar 2008

Abstract excerpt

OBJECTIVE: To elucidate the structure of terminal inverted duplications and to investigate potential mechanisms of formation in two cases where there was mosaicism with cells of apparently normal karyotype. RESULTS: A karyotype [46,XY,inv dup(4)(p16.3p15.1)/46,XY] performed on blood lymphocytes from a patient referred for developmental delay (case 1) demonstrated a normal karyotype in 60% of cells with a terminal...

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PMID: 18331649
DOI: 10.1186/1475-9268-7-1

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