31
Jul
Reciprocal translocation between chromosomes 3 and 10
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Reciprocal translocations are the interchange of genetic material between two chromosomes, leaving breakpoints in each. When this exchange does not result in any net genetic material lost or gained, it is termed a “balanced” translocation and leads to a normal phenotype (if the breakpoints do not disrupt any protein-coding genes).... Read More
24
Jul
Optical genome mapping
Optical genome mapping (OGM) is a novel cytogenomic technology Structural variants (SVs) are a common cause of pregnancy loss and genetic disease, but conventional genetic testing methods such as karyotyping, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS) do not always allow for sufficient detection... Read More
24
Jul
Mosaic 8q23.1-q24.12 deletion
Langer-Giedon syndrome (LGS) and Cornelia de Lange Syndrome (CdLS) The genes TPRS1, RAD21, and EXT1 are all in close proximity to one another on chromosome 8 in region 8q23.3-q24.11. TPRS1 and EXT1 are implicated in Langer-Giedon Syndrome (LGS), a rare autosomal dominant deletion disorder characterized by craniofacial abnormalities, osteochondromas,... Read More
21
Jul
Cardiomyopathy and the PRDM16 gene
Cardiomyopathy and the PRDM16 gene and its relationship to cardiac phenotypes. Dilated cardiomyopathy (DCM) is a frequent manifestation in patients with 1p36 deletion syndrome. However, it is not clear which of multiple genes in this region are responsible for DCM. Loss of function (LoF) variants in the PRDM16 gene have... Read More
21
Jul
Reciprocal translocation chromosomes 3 and 10
Reciprocal translocation between chromosomes 3 and 10 in a family spanning three generations. Reciprocal translocations are the interchange of genetic material between two chromosomes, leaving breakpoints in each. When this exchange does not result in any net genetic material lost or gained, it is termed a “balanced” translocation and leads... Read More
