PMID: 9450856Feb 5, 1998Paper

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

American Journal of Medical Genetics
W L FlejterA R Brothman

Abstract

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 responsib...Continue Reading

References

Jul 1, 1992·American Journal of Medical Genetics·H OhashiT Kajii
Mar 1, 1990·Human Genetics·K MillerS D Flatz
Jan 1, 1990·American Journal of Medical Genetics·D B Flannery
Jul 1, 1989·Annals of Human Genetics·L PapiO Zuffardi
Feb 1, 1986·The Journal of Clinical Investigation·W EarnshawN Rothfield
Apr 1, 1987·The Journal of Cell Biology·D K PalmerR L Margolis
Apr 1, 1996·The Journal of Cell Biology·W A Wells, A W Murray

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Citations

Jun 13, 2008·American Journal of Medical Genetics. Part a·Herbert García-CastilloPatricio Barros-Núñez
Apr 5, 2002·American Journal of Medical Genetics·Sébastien JacquemontAlbert David
Apr 27, 2004·American Journal of Medical Genetics. Part a·Tatsuro IkeuchiTadashi Kajii
Apr 21, 2004·American Journal of Medical Genetics. Part a·Tadashi Kajii, Tatsuro Ikeuchi
Jul 17, 2007·American Journal of Medical Genetics. Part a·Mark A MicaleDaniel L Van Dyke

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