title: Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report.
abstract: BACKGROUND
  Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We report on a patient with various clinical malformations and developmental delay in connection with an inverted duplication event, involving chromosome 8p.
  
  
  METHODS
  Chromosome analysis, multicolor banding analysis (MCB), extensive fluorescence in situ hybridization (FISH) analysis and microsatellite analysis were performed.
  
  
  RESULTS
  The karyotype was characterized in detail by multicolor banding (MCB), subtelomeric and centromere-near probes as 46,XY,dup(8)(pter->p23.3::p12->p23.3::p23.3->qter). Additionally, microsatellite analysis revealed the paternal origin of the duplication and gave hints for a mitotic recombination involving about 6 MB in 8p23.3.
  
  
  CONCLUSIONS
  A comprehensive analysis of the derivative chromosome 8 suggested a previously unreported mechanism of formation, which included an early mitotic aberration leading to maternal isodisomy, followed by an inverted duplication of the 8p12p23.3 region.
authors: Hacettepe University Faculty of Medicine, Department of Genetics, 06100 Sihhiye, Ankara, Turkey. daktas@hacettepe.edu.tr.
authors: Dilek
authors: D
authors: Aktas
authors: Anja
authors: A
authors: Weise
authors: Eda
authors: E
authors: Utine
authors: Dursun
authors: D
authors: Alehan
authors: Kristin
authors: K
authors: Mrasek
authors: Ferdinand
authors: F
authors: von Eggeling
authors: Heike
authors: H
authors: Thieme
authors: Ergul
authors: E
authors: Tuncbilek
authors: Thomas
authors: T
authors: Liehr