PMID- 19566937
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20110714
LR  - 20211020
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 2
DP  - 2009 Jun 30
TI  - Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 
      including maternal isodisomy of 8p23.3: a case report.
PG  - 14
LID - 10.1186/1755-8166-2-14 [doi]
AB  - 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. CONCLUSION: 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.
FAU - Aktas, Dilek
AU  - Aktas D
AD  - Hacettepe University Faculty of Medicine, Department of Genetics, 06100 Sihhiye, 
      Ankara, Turkey. daktas@hacettepe.edu.tr.
FAU - Weise, Anja
AU  - Weise A
FAU - Utine, Eda
AU  - Utine E
FAU - Alehan, Dursun
AU  - Alehan D
FAU - Mrasek, Kristin
AU  - Mrasek K
FAU - von Eggeling, Ferdinand
AU  - von Eggeling F
FAU - Thieme, Heike
AU  - Thieme H
FAU - Tuncbilek, Ergul
AU  - Tuncbilek E
FAU - Liehr, Thomas
AU  - Liehr T
LA  - eng
PT  - Journal Article
DEP - 20090630
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC2715415
EDAT- 2009/07/02 09:00
MHDA- 2009/07/02 09:01
PMCR- 2009/06/30
CRDT- 2009/07/02 09:00
PHST- 2009/05/06 00:00 [received]
PHST- 2009/06/30 00:00 [accepted]
PHST- 2009/07/02 09:00 [entrez]
PHST- 2009/07/02 09:00 [pubmed]
PHST- 2009/07/02 09:01 [medline]
PHST- 2009/06/30 00:00 [pmc-release]
AID - 1755-8166-2-14 [pii]
AID - 10.1186/1755-8166-2-14 [doi]
PST - epublish
SO  - Mol Cytogenet. 2009 Jun 30;2:14. doi: 10.1186/1755-8166-2-14.