Cytogenomic epileptology.

Molecular cytogenetic and cytogenomic studies have made a contribution to genetics of epilepsy. However, current genomic research of this devastative condition is generally focused on the molecular genetic aspects (i.e.

Sputnik V protection from COVID-19 in people living with HIV under antiretroviral therapy.

Background: HIV-infection is known to aggravate the course of many infectious diseases, including COVID-19. International guidance recommends vaccination of HIV+ individuals against SARS-CoV-2. There is a paucity of data on epidemiological efficacy assessment of COVID-19 vaccines among HIV+.

Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis.

Background: Klinefelter syndrome is a common chromosomal (aneuploidy) disorder associated with an extra X chromosome in males. Regardless of numerous studies dedicated to somatic gonosomal mosaicism, Klinefelter syndrome mosaicism (KSM) has not been systematically addressed in clinical cohorts. Here, we report on the evaluation of KSM in a large cohort of boys with neurodevelopmental disorders.

Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis.

Background: Turner's syndrome is associated with either monosomy or a wide spectrum of structural rearrangements of chromosome X. Despite the interest in studying (somatic) chromosomal mosaicism, Turner's syndrome mosaicism (TSM) remains to be fully described. This is especially true for the analysis of TSM in clinical cohorts (e.

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.

Background: Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost exclusively in males.