title: Small supernumerary marker chromosome derived from proximal p-arm of chromosome 2: identification by fluorescent in situ hybridization.
abstract: Conventional cytogenetics detected an interstitial deletion of proximal region of p-arm of chromosome 2 in a 6-month-old boy with a phenotype slightly resembling Down's syndrome. The deletion was inherited from the father, whose karyotype revealed a small ring-shaped marker chromosome, in addition to interstitial deletion. Fluorescence in situ hybridization identified the marker, which consisted of the proximal region of the p-arm of chromosome 2, including a part of its centromere. This case shows that molecular cytogenetic analysis can reveal the mechanism of the formation of the marker chromosome.
authors.affiliation: Division of Genetics and Metabolism, Cytogenetic Laboratory, Department of Pediatrics, Zagreb University Hospital Center, Zagreb, Croatia. lasan_ruzica@hotmail.com
authors.forename: Ruzica
authors.initials: R
authors.lastname: Lasan Trcić
authors.forename: Vlasta
authors.initials: V
authors.lastname: Hitrec
authors.forename: Ljiljana
authors.initials: L
authors.lastname: Letica
authors.forename: Mario
authors.initials: M
authors.lastname: Cuk
authors.forename: Davor
authors.initials: D
authors.lastname: Begović
mesh_terms: D002869:Chromosome Aberrations; D002889:Chromosomes, Human, Pair 2 / Q000648:ultrastructure*; D020732:Cytogenetic Analysis; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D012303:Ring Chromosomes; D012680:Sensitivity and Specificity
chemical_list: D005819:Genetic Markers