Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF00326114 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the Gene and Literature Review.
Diagnostics (Basel)
November 2024
Endocrinology Department, Elias Emergency University Hospital, 011461 Bucharest, Romania.
: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.
View Article and Find Full Text PDFX-inactive-specific transcript: a long noncoding RNA with a complex role in sex differences in human disease.
Biol Sex Differ
December 2024
Department of Internal Medicine, Pulmonary, Critical Care, and Sleep Medicine, Rush University Medical Center, Chicago, IL, 60612, USA.
In humans, the X and Y chromosomes determine the biological sex, XX specifying for females and XY for males. The long noncoding RNA X-inactive specific transcript (lncRNA XIST) plays a crucial role in the process of X chromosome inactivation (XCI) in cells of the female, a process that ensures the balanced expression of X-linked genes between sexes. Initially, it was believed that XIST can be expressed only from the inactive X chromosome (Xi) and is considered a typically female-specific transcript.
View Article and Find Full Text PDFAge-related differences in psychopathology within sex chromosome trisomies.
medRxiv
November 2024
National Institutes of Health, National Institute of Mental Health, Bethesda, MD, United States.
Sex chromosome trisomies (SCTs) are a group of genetic disorders characterized by presence of a supernumerary sex chromosome, resulting in karyotypes other than XX or XY. These include XXX (Trisomy X), XXY (Klinefelter syndrome), and XYY (Jacobs syndrome). Sex chromosome trisomies have been linked to increased risk for psychopathology; however, this relationship warrants additional research.
View Article and Find Full Text PDFWhite matter organization abnormalities in adults with 47,XXX: A 7 Tesla MRI study.
Psychiatry Res Neuroimaging
December 2024
Department of Psychiatry and Neuropsychology, Mental Health and Neuroscience Institute (MHeNS), Maastricht University, Maastricht, the Netherlands; 's Heeren Loo Zorggroep, Amersfoort, the Netherlands.
47,XXX (Triple X syndrome) is a sex chromosome aneuploidy characterized by the presence of a supernumerary X chromosome in affected females, and has been associated with a variable cognitive, behavioral, and psychiatric phenotype. Alterations in brain gray matter structure and function have been reported, but less is known about white matter (WM) organization in 47,XXX. Therefore, we conducted 7 T diffusion tensor imaging and characterized fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity of 22 adult women with 47,XXX and 22 age-matched typically developing females using tract-based spatial statistics.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!