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 usually preferentially inactivated. If, due...
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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 include cognitive, behavioral, and medical...
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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 located at 12q12 is one...
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