Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion.
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.
Lefort
Geneviève
G
Cytogenetics Laboratory, C.H.U. Montpellier, France.
Blanchet
Patricia
P
Belgrade
Nabia
N
Rivier
François
F
Chaze
Anne Marie
AM
Sarda
Pierre
P
Demaille
Jacques
J
Pellestor
Franck
F
D002503:Centromere / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D005192:Family Health; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping