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

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Article

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

American journal of medical genetics - 6 Jan 1998

Flejter W L, Issa B, Sullivan B A, Carey J C, Brothman A R

Abstract excerpt

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...

Topics

Centromere
Child, Preschool
Chromosomal Proteins, Non-Histone
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 8
Cytogenetics
Female
Genotype
Humans
Phenotype
Ploidies
Trisomy

Source

Open in PubMed

Identifiers

PMID: 9450856

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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