Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review.

Journal Article (Journal Article;Review)

Cytogenetic studies of 2 sisters with mild microcephaly, growth deficiency, and mild errors of morphogenesis demonstrated a unique combination of multiple trisomies, most often involving chromosomes 8 and 18 either together as sole trisomies or in combination with other chromosomes. Since neither sib has phenotypic anomalies associated with trisomy 8 or 18 mosaicism, the trisomies likely did not occur during embryogenesis, but later possibly due to a predisposition for mitotic instability. To determine if the observed chromosome instability may be related to centromere function, metaphase cells were characterized by immunofluorescence of the centromere protein, CENP-E. Hybridization of CENP-E antibodies, in combination with in situ hybridization of a chromosome 8 or 18 alpha-satellite probe, showed hybridization to chromosomes 8 and 18 in both normal and aneuploid cells from each patient. These data indicate that the chromosomes in each child contain functional and active centromeres. The clinical and cytogenetic findings in these 2 individuals are compared with 7 other previously reported individuals, each of whom have similar findings. Together, these studies support the notion that a recessive mitotic mutant may be responsible for the chromosomal mosaicism and for the resulting clinical phenotype.

Full Text

Duke Authors

Cited Authors

  • Flejter, WL; Issa, B; Sullivan, BA; Carey, JC; Brothman, AR

Published Date

  • January 6, 1998

Published In

Volume / Issue

  • 75 / 1

Start / End Page

  • 45 - 51

PubMed ID

  • 9450856

Pubmed Central ID

  • 9450856

International Standard Serial Number (ISSN)

  • 0148-7299

Language

  • eng

Conference Location

  • United States