title: Supernumerary ring chromosome 20 in a mother and her child.
abstract: The authors report a familial case of mosaicism for an extra ring 20, identified by fluorescence in situ hybridization (FISH), in a mother and her child. In spite of the fact that both patients had clinical abnormalities, the more severe phenotype present in the child was probably due to the higher percentage of abnormal cells. To our knowledge, this is the first report of a familial extra ring 20 mosaicism.
authors.affiliation: Instituto de Genética Médica Dr. Jacinto de Magalhães, Praça Pedro Nunes 88, 4050-466 Porto, Portugal. maxima.pinto@igm.min-saude.pt
authors.forename: M R
authors.initials: MR
authors.lastname: Pinto
authors.forename: M L
authors.initials: ML
authors.lastname: Fonseca e Silva
authors.forename: J
authors.initials: J
authors.lastname: Aguiar
authors.forename: I
authors.initials: I
authors.lastname: Quelhas
authors.forename: M R
authors.initials: MR
authors.lastname: Lima
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D002871:Chromosome Banding; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009035:Mothers; D012303:Ring Chromosomes