title: Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13.
abstract: The occurrence of mosaic ring chromosome 13 is rare. The mechanism of ring chromosome formation is usually associated with loss of genetic material. We report 2 cases of mosaic ring chromosome 13, resulting in deletion of 13qter. The first patient, a 15 year-old boy, presented a delayed psychomotor development, mental retardation, dysmorphic features and bleeding disorders associated with a de novo terminal 13q34 deletion. The second case was a foetus of 31 weeks with prenatal diagnosis of severe malformation such as holoprosencephaly, congenital cardiac defects, gastro-intestinal abnormalities with intrauterine growth retardation, the molecular analysis showed a de novo deletion encompassing the region 13q31.3-q34.
authors.affiliation: Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liège, Belgium. auwineza@doct.ulg.ac.be
authors.forename: A
authors.initials: A
authors.lastname: Uwineza
authors.forename: G
authors.initials: G
authors.lastname: Pierquin
authors.forename: S
authors.initials: S
authors.lastname: Gaillez
authors.forename: M
authors.initials: M
authors.lastname: Jamar
authors.forename: A C
authors.initials: AC
authors.lastname: Hellin
authors.forename: J H
authors.initials: JH
authors.lastname: Caberg
authors.forename: V
authors.initials: V
authors.lastname: Bours
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000235:genetics*; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012303:Ring Chromosomes; D055815:Young Adult