Variegated aneuploidy in two siblings: Phenotype, genotype, CENP-E analysis, and literature 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 si...

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Bibliographic Details
Published in:American journal of medical genetics 1998-01, Vol.75 (1), p.45-51
Main Authors: Flejter, Wendy L., Issa, Bonnie, Sullivan, Beth A., Carey, John C., Brothman, Arthur R.
Format: Article
Language:English
Subjects:
aneuploidy
Biological and medical sciences
Centromere - genetics
Child, Preschool
Chromosomal Proteins, Non-Histone - analysis
Chromosome aberrations
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 8
Cytogenetics
Female
Genotype
Humans
Medical genetics
Medical sciences
multiple trisomy
Phenotype
Ploidies
Trisomy - pathology
variegated aneuploidy
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Summary: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 α‐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. Am. J. Med. Genet. 75:45–51, 1998. © 1998 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19980106)75:1<45::AID-AJMG10>3.0.CO;2-S