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Neurodevelopmental and Mental Health Outcomes in a National Clinical Sample of Youth With Sex Chromosome Trisomies Compared With Matched Controls.
J Dev Behav Pediatr
January 2025
eXtraordinarY Kids Clinic and Research Program, Children's Hospital Colorado, Aurora, CO.
Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.
Methods: Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers.
Extra X, extra questions: Trisomy X syndrome and IgA deficiency - a case report.
Front Immunol
December 2024
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
While Trisomy X syndrome is typically characterized by developmental and cognitive variations, it is not commonly associated with immunodeficiencies. We report the unique case of a 6-year-old girl with Trisomy X presenting with selective IgA deficiency, challenging the conventional understanding of this chromosomal condition. The patient exhibited recurrent respiratory infections and gastrointestinal symptoms, evaluated in the context of her genetic background of Trisomy X and significantly low levels of IgA (0.
View Article and Find Full Text PDFMicrocell-mediated chromosome transfer between non-identical human iPSCs.
Mol Ther Nucleic Acids
December 2024
Department of Chromosome Biomedical Engineering, Integrated Medical Sciences, Graduate School of Medical Sciences, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Article Synopsis
- Microcell-mediated chromosome transfer (MMCT) is a new technique for manipulating chromosome numbers using human induced pluripotent stem cells (hiPSCs) to create disease models with hyperaneuploidy.
- The study highlights the efficiency of using hiPSCs as both donor and recipient cells in the chromosome transfer process, allowing for the tagging and transfer of specific chromosomes like Chr21 and ChrY using CRISPR-Cas9.
- This innovative method aims to improve the study of rare diseases and enhance our understanding of early development by integrating key chromosomal regions into hiPSCs.
The clinical performance of fetal sex chromosome abnormalities in serum biochemical screening in the second trimester.
Sci Rep
November 2024
Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
This study aimed to investigate the serum biochemical markers' propensity associated with sex chromosome abnormalities (SCAs) and assess the clinical efficacy of SCAs in serum biochemical screening during the second trimester. A retrospective case-control analysis was conducted on pregnant women who underwent serum biochemical screening during the second trimester. The study compared groups of women with SCAs to those with normal chromosome karyotypes to assess changes in biochemical markers.
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.
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