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Article

Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype.

American journal of medical genetics. Part A - 15 Apr 2003

Rinaldi R, De Bernardo C, Assumma M, Grammatico B, Buffone E, Poscente M, Grammatico P

Abstract excerpt

We report on a newborn with severe psychomotor retardation, minor anomalies, congenital heart defects, thumb and urogenital abnormalities. Cytogenetic analysis showed a 4q24qter duplication, never described before, as the result of a de novo t(4;14). The extension of the duplicated 4q region was defined by FISH using YAC probes. The breakpoint was localized between 106.3cM (YAC 800f2, D4S1572) and 111 cM (YAC...

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PMID: 12655492
DOI: 10.1002/ajmg.a.10093

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Source receipt: pubmed, retrieved 7 Sept 2026.

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