title: A female with monosomy 18 mosaicism: a previously undescribed chromosome abnormality.
abstract: We report on a patient with monosomy 18 mosaicism, a previously undescribed chromosome abnormality. The phenotype is reminiscent of chromosome 18 ring mosaicism. The reason that the patient survived may be attributed to low level mosaicism for the monosomy.
authors.affiliation: Department of Paediatrics, Queen's University, Kingston, ON, Canada.
authors.forename: M M
authors.initials: MM
authors.lastname: Khalifa
authors.forename: H
authors.initials: H
authors.lastname: Yamashiro
authors.forename: A M
authors.initials: AM
authors.lastname: Duncan
authors.forename: M
authors.initials: M
authors.lastname: Hefferon
authors.forename: A E
authors.initials: AE
authors.lastname: Martin
mesh_terms: D002887:Chromosomes, Human, Pair 18; D019066:Facies; D005183:Failure to Thrive / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D009030:Mosaicism; D009759:Nystagmus, Pathologic / Q000235:genetics; D009896:Optic Atrophy / Q000235:genetics