lederbogen, rosa catalina hoffjan, sabine thiels, charlotte mau-holzmann, ulrike angelika singer, sylke yusenko, maria viktorovna phuc nguyen, hoa huu gerding, wanda maria
While balanced reciprocal translocations are relatively common, they often remain clinically silent unless they lead to the disruption of functional genes. In this study, we present the case of a boy exhibiting developmental delay and mild intellectual disability. Initial karyotyping revealed a translocation t(5;6)(q13;q23) between chromosomes 5 an...
barseghyan, hayk eisenreich, doris lindt, evgenia wendlandt, martin scharf, florentine benet-pages, anna sendelbach, kai neuhann, teresa abicht, angela holinski-feder, elke
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Chromosome analysis (CA) and chromosomal microarray analysis (CMA) have been successfully used to diagnose genetic disorders. However, many conditions remain undiagnosed due to limitations in resolution (CA) and detection of only unbalanced events (CMA). Optical genome mapping (OGM) has the potential to address these limitations by capturing both s...
Moore, Sarah McGowan-Jordan, Jean Smith, Adam C. Rack, Katrina Koehler, Udo Stevens-Kroef, Marian Barseghyan, Hayk Kanagal-Shamanna, Rashmi Hastings, Ros
Published in
Cytogenetic and Genome Research
Background: Genome Mapping Technologies (optical and electronic) use ultra-high molecular weight DNA to detect structural variation and have application in constitutional genetic disorders, hematological neoplasms, and solid tumors. Genome mapping can detect balanced and unbalanced structural variation, copy number changes, and haplotypes. The tech...
kovanda, anja lovrečić, luca rudolf, gorazd bozovic, ivana babic jaklič, helena leonardis, lea peterlin, borut
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary muscular dystrophy, caused by the contraction of the D4Z4 repeats on the permissive 4qA haplotype on chromosome 4, resulting in the faulty expression of the DUX4 gene. Traditional diagnostics are based on Southern blotting, a time- and effort-intensive method that can...
Petit, Yves
International audience
erbe, leoni s. hoffjan, sabine janßen, sören kneifel, moritz krause, karsten gerding, wanda m. döring, kristina güttsches, anne-katrin roos, andreas atienza, elena buena
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Duchenne muscular dystrophy (DMD) is a severe progressive muscle disease that mainly affects boys due to X-linked recessive inheritance. In most affected individuals, MLPA or sequencing-based techniques detect deletions, duplications, or point mutations in the dystrophin-encoding DMD gene. However, in a small subset of patients clinically diagnosed...
barseghyan, hayk chun pang, andy wing clifford, benjamin serrano, moises a. chaubey, alka hastie, alex r.
The recommended practice for individuals suspected of a genetic etiology for disorders including unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA) involves a genetic testing workflow including chromosomal microarray (CMA), Fragile-X testing, karyotype analysis, ...
Büki, Gergely Bekő, Anna Bödör, Csaba Urbán, Péter Németh, Krisztina Hadzsiev, Kinga Fekete, György Kehrer-Sawatzki, Hildegard Bene, Judit
Published in
International journal of molecular sciences
Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous disorder inherited in autosomal dominant manner. Approximately 5-10% of the cases are caused by NF1 microdeletions involving the NF1 gene and its flanking regions. Microdeletions, which lead to more severe clinical manifestations, can be subclassified into four different ty...
Gachet, Nina-Lou Foyer, Jean
Les précédents gouvernements populistes de gauche en Amérique latine (Evo Morales en Bolivie, Rafael Correa en Équateur entre autres) ont eu le plus grand mal à concilier l’écologie politique avec leurs objectifs centraux de développement et de redistribution sociale. Les mêmes ambiguïtés entre ces différents courants, semblent se rejouer avec le g...
Brosset, Estelle
Si, ces deux dernières années, en droit des biotechnologies, l’on a pu relever certaines actualités, celle qui a concentré la plus grande attention est sans conteste la seconde affaire préjudicielle Confédération paysanne. Il faut dire qu’il s’agissait là de trancher une question pour le moins déterminante, celle de savoir si les techniques de muta...
