title: Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p).
abstract: Fluorescence In Situ Hybridization and single nucleotide polymorphism of a new case with inv dup del(8p): Inverted duplication deletion of 8p [inv dup del(8p)] is a complex chromosome rearrangement leading among others to deletion of the chromosome region distal to the duplication in 8p. A new case with an inverted duplication deletion of 8p and the results of SNP-array analysis and fluorescence in situ hybridization (FISH) are reported here. Our results are in concordance with earlier reported inv dup del(8p) cases.
authors.affiliation: Kayseri Education and Research Hospital, Department of Medical Genetics, Kayseri, Turkey. okaycaglayan@yahoo.com
authors.forename: A O
authors.initials: AO
authors.lastname: Caglayan
authors.forename: J J M
authors.initials: JJ
authors.lastname: Engelen
authors.forename: S
authors.initials: S
authors.lastname: Ghesquiere
authors.forename: M
authors.initials: M
authors.lastname: Alofs
authors.forename: C
authors.initials: C
authors.lastname: Saatci
authors.forename: M
authors.initials: M
authors.lastname: Dundar
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis*; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D046228:Microarray Analysis; D020641:Polymorphism, Single Nucleotide; D014421:Turkey