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Article

Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1‐5q31.3 in ten unbalanced carriers

28 Aug 2004

Abstract excerpt

We report on the clinical and cytogenetic data of a large family with an unbalanced insertion translocation (3;5)(q25.3;q22.1q31.3). Analysis of GTG-banded chromosomes demonstrated that unbalanced inheritance of a parental insertion translocation caused either a partial deletion or duplication 5q in this family. The derivative chromosomes were characterized further using microdissection and FISH with...

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Identifiers

PMID: 15372532
DOI: 10.1002/ajmg.a.20568

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