Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report.
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.
Aktas
Dilek
D
Hacettepe University Faculty of Medicine, Department of Genetics, 06100 Sihhiye, Ankara, Turkey. daktas@hacettepe.edu.tr.
Weise
Anja
A
Utine
Eda
E
Alehan
Dursun
D
Mrasek
Kristin
K
von Eggeling
Ferdinand
F
Thieme
Heike
H
Tuncbilek
Ergul
E
Liehr
Thomas
T