02
Nov
Chromosome 1q42 deletion and renal cell carcinoma
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Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a cancer syndrome that is caused by mutations in the FH gene in 90% of cases. In the other 10% of cases, the genetic cause is unknown. Here, the authors examined 28 patients from 13 families where no point mutation in FH... Read More
02
Nov
Atypical Chromosome X-inactivation
In females, because there are 2 X chromosomes, one of them undergoes a phenomenon of X-inactivation where it becomes silenced and is not expressed. The chromosome that becomes silenced in each cell is usually random. However, when a translocation involving the X chromosome occurs, the structurally abnormal X chromosome is... Read More
01
Nov
Potocki-Lupski Syndrome (PTLS)
Potocki-Lupski Syndrome (PTLS) is a disorder caused by a duplication of the 17p11.2 region of chromosome 17, including the RAI1 (Retinoic acid-induced protein 1) gene. Duplication of the RAI1 gene in particular is thought to be the key contributor to the symptoms of this disorder. These symptoms are vast and... Read More
01
Nov
Chromosome 10p15.3 deletion and neurological symptoms
Chromosome 10p15.3 is the most distal segment of 10p. The deletions within this area are characterized by developmental delay, motor skill delay, speech disorders, brain abnormalities, and seizures. Two genes within this region – ZMYND11 and DIP2C – are commonly deleted due to this condition, and loss of these is... Read More
01
Nov
Chromosome 12q12 deletion – confirmation of an ARID2 gene defect
Van Paemel et al. “Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability”. American Journal of Medical Genetics, 2017, v. 173, 3104-3108. The ARID (AT rich interaction domain) group of genes belongs to a family known as the SWItch/Sucrose NonFermentable (SWI/SNF) complex involved in gene regulation and development. The ARID2... Read More
