PURPOSE Ring chromosome 20 {r(20)}--manifests as a refractory epilepsy syndrome with complex partial seizures (CPS), nocturnal frontal lobe seizures and non-convulsive status epilepticus (NCSE) in the majority of cases. r20 lacks a specific phenotypic expression or dysmorphic features. Psychomotor development may be normal, making the diagnosis difficult unless there is a high index of suspicio...

The objective of this study was to examine the suitability of multiplex ligation-dependent probe amplification (MLPA) in chorionic villus samples as a replacement for traditional karyotyping for the detection of (an)euploidies of chromosomes 21, 18, 13, X, and Y. Chorionic villus samples were diagnosed by traditional karyotyping using short-term cultures (STC) and long-term cultures (LTC), and ...

Autism is a common neuropsychiatric disorder affecting 1 in 68 children. Copy number variations (CNVs) are known to be major contributors of autism spectrum disorder (ASD). There are different whole genome or targeted techniques to identify CNVs in the patients including karyotyping, multiplex ligation-dependent probe amplification (MLPA) and array CGH. In this study, we used karyotyping and ML...

The induction of tetraploidy by means of cold, heat and multiple heat shock treatments was investigated on male fish from a growth-enhanced transgenic tilapia C118 line, crossed with wild type females. After the development a new multiple heat shock protocol (two heat treatments at 41oC in 60 and 80 min. after fertilization for 5 min. per each), chromosome and X-gal in situ staining assays demo...

Spectral karyotyping (SKY) represents an effective tool to detect individual chromosomes and analyze major karyotype abnormalities within an entire genome. We have tested the feasibility of combining SKY and FISH/protein detection in order to combine SKY's unique abilities with specific loci detection. Our experimental results demonstrate that various combined protocols involving SKY, FISH and ...