title: Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8.
abstract: The characterization of a prenatally detected very small (approximately half of 18p-(karyotype: 47,XX,+mar[16]/46,XX[7]) supernumerary marker chromosome (SMC) identified by GTG-banding analysis is described. The marker has been identified as derived from chromosome 8 centromeric material using a combination of different cytogenetic (GTG-, NOR-, CBG banding), molecular cytogenetic (24 colour-fluorescent in situ hybridization [FISH], three-colour FISH using centromeric probes for all human chromosomes) and molecular genetic techniques (microsatellite analysis). This is the first case described with such a minute SMC derived from chromosome 8 diagnosed prenatally, the 15th case reporting on a SMC originating from chromosome 8 and the third such case without any severe clinical features.
authors.affiliation: Institute of Human Genetics and Anthropology, Jena, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Starke
authors.forename: I
authors.initials: I
authors.lastname: Schreyer
authors.forename: C
authors.initials: C
authors.lastname: Kähler
authors.forename: W
authors.initials: W
authors.lastname: Fiedler
authors.forename: V
authors.initials: V
authors.lastname: Beensen
authors.forename: A
authors.initials: A
authors.lastname: Heller
authors.forename: A
authors.initials: A
authors.lastname: Nietzel
authors.forename: U
authors.initials: U
authors.lastname: Claussen
authors.forename: T
authors.initials: T
authors.lastname: Liehr
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002898:Chromosomes, Human, Pair 8; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018895:Microsatellite Repeats; D011247:Pregnancy; D014314:Trisomy / Q000175:diagnosis*