title: Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: an update.
abstract: A father and his 2 daughters were previously determined to carry a small, supernumerary marker chromosome [Chudley et al., 1983]. The origin of this marker could not be determined by standard cytogenetic techniques. In this study, fluorescence in situ hybridization (FISH) studies identified the marker chromosome as a pericentric derivative of chromosome 8. The father has low grade mosaicism for this marker and is phenotypically normal. Both daughters are non-mosaic and show developmental delays and somewhat differing clinical findings. The phenotypes of the 2 sisters are compared with those previously reported for supernumerary der(8) patients. This is the first report of familial transmission of a supernumerary der(8) marker chromosome.
authors.affiliation: Department of Human Genetics, University of Manitoba, Winnipeg, Canada.
authors.forename: H
authors.initials: H
authors.lastname: Rothenmund
authors.forename: A E
authors.initials: AE
authors.lastname: Chudley
authors.forename: A J
authors.initials: AJ
authors.lastname: Dawson
mesh_terms: D000293:Adolescent; D002898:Chromosomes, Human, Pair 8; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D012303:Ring Chromosomes; D014314:Trisomy / Q000175:diagnosis
chemical_list: D005819:Genetic Markers