PMID- 20162868 OWN - NLM STAT- MEDLINE DCOM- 20100318 LR - 20100218 IS - 1015-8146 (Print) IS - 1015-8146 (Linking) VI - 20 IP - 4 DP - 2009 TI - Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p). PG - 333-40 AB - 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. FAU - Caglayan, A O AU - Caglayan AO AD - Kayseri Education and Research Hospital, Department of Medical Genetics, Kayseri, Turkey. okaycaglayan@yahoo.com FAU - Engelen, J J M AU - Engelen JJ FAU - Ghesquiere, S AU - Ghesquiere S FAU - Alofs, M AU - Alofs M FAU - Saatci, C AU - Saatci C FAU - Dundar, M AU - Dundar M LA - eng PT - Case Reports PT - Journal Article PL - Switzerland TA - Genet Couns JT - Genetic counseling (Geneva, Switzerland) JID - 9015261 SB - IM MH - Chromosome Deletion MH - Chromosome Disorders/*diagnosis MH - Chromosome Inversion MH - *Chromosomes, Human, Pair 8 MH - Female MH - Gene Duplication MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Infant, Newborn MH - *Microarray Analysis MH - *Polymorphism, Single Nucleotide MH - Turkey EDAT- 2010/02/19 06:00 MHDA- 2010/03/20 06:00 CRDT- 2010/02/19 06:00 PHST- 2010/02/19 06:00 [entrez] PHST- 2010/02/19 06:00 [pubmed] PHST- 2010/03/20 06:00 [medline] PST - ppublish SO - Genet Couns. 2009;20(4):333-40.