Case Reports
Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion
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- PMID: 12698965
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Case Reports
Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion
Am J Med Genet A.
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Abstract
We report on the extremely rare occurrence of a stable dicentric duplication-deletion chromosome 14 in a viable offspring with multiple malformations and developmental delay. This abnormality was derived from a maternal paracentric inversion in the long arm of chromosome 14. Both classical and molecular cytogenetic techniques were used to perform the chromosomal investigation of this structural abnormality. The immunofluorescent labeling of centromeric proteins shows only one functional centromere on the rearranged chromosome 14. The present observation confirms that paracentric inversions may lead to stable recombinant chromosomes.
Corrected and republished from
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Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion.Am J Med Genet. 2002 Dec 15;113(4):333-8. doi: 10.1002/ajmg.b.10720. Am J Med Genet. 2002. Corrected and republished in: Am J Med Genet A. 2003 Apr 15;118A(2):333-8. PMID: 12457404 Corrected and republished.