Case report

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

Dilek Aktas¹ , Anja Weise² , Eda Utine¹ , Dursun Alehan³ , Kristin Mrasek² , Ferdinand von Eggeling² , Heike Thieme² , Ergul Tuncbilek¹ and Thomas Liehr²

¹  Hacettepe University Faculty of Medicine, Department of Genetics, 06100 Sihhiye, Ankara, Turkey

²  Institut für Humangenetik und Anthropologie, Kollegiengasse 10, D-07743 Jena, Germany

³  Hacettepe University Faculty of Medicine, Department of Peditarics Cardiology, 06100 Sihhiye, Ankara, Turkey

author email corresponding author email

Molecular Cytogenetics 2009, 2:14doi:10.1186/1755-8166-2-14

Published:	30 June 2009

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.

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.