title: Three new cases with a supernumerary ring chromosome 1.
abstract: We report on three cases with a cytogenetically identical ring chromosome containing euchromatin from the long arm of chromosome 1 (r[1][::p11.1-->q21.1::]). Two cases were newborn males (Cases 1 and 2) and the third one was prenatally identified as female (Case 3). Mosaicism was present in all three cases in different degrees, i.e. 48%, 25% and 14% of the cells, respectively. Clinical signs and symptoms vary between the three cases. The results of our three cases are compared with those from the literature.
authors.affiliation: Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, Spain Institute of Human Genetics and Anthropology, Jena, Germany Hospital de Leganés, Madrid, Spain Institute of Human Genetics, Charité, Campus Virchow, Berlin, Germany Practice of Clinical Genetics, Düsseldorf, Germany Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Dpto de Farmacología, Facultad de Medicina, Universidad Complutense de Madrid, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Rodríguez
authors.forename: Heike
authors.initials: H
authors.lastname: Starke
authors.forename: Nieves Martínez
authors.initials: NM
authors.lastname: Guardia
authors.forename: Holger
authors.initials: H
authors.lastname: Tönnies
authors.forename: Heidemarie
authors.initials: H
authors.lastname: Neitzel
authors.forename: Peter
authors.initials: P
authors.lastname: Kozlowski
authors.forename: M-L
authors.initials: ML
authors.lastname: Mazauric
authors.forename: Anita
authors.initials: A
authors.lastname: Heller
authors.forename: Fermina López
authors.initials: FL
authors.lastname: Grondona
authors.forename: Elena
authors.initials: E
authors.lastname: Mansilla
authors.forename: M José
authors.initials: MJ
authors.lastname: Santos Muñoz
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Martínez-Frías
mesh_terms: D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D012303:Ring Chromosomes