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Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping.
J Clin Lab Anal
January 2025
Department of Urology, Zhongshan People's Hospital, ZhongShan, China.
Objective: To explore the impact of in vitro cell subculture on prenatal diagnostic sample results and compare the efficacy of conventional karyotyping and chromosomal microarray analysis (CMA) in detecting chromosome mosaicism.
Methods: We conducted a retrospective analysis of G-banding karyotyping and CMA data from 2007 amniocentesis cases to investigate chromosome mosaicism.
Results: Chromosome mosaicism was detected in 1.
Clinical and genetic diagnosis of first cohort of differences of sexual development in the Iranian population.
J Pediatr Endocrinol Metab
January 2025
Department of Genetics, Reproductive Biomedicine Research Center, 48499 Royan Institute for Reproductive Biomedicine, ACECR , Tehran, Iran.
Differences of sex development (DSD) refer to various congenital conditions affecting the urogenital and hormonal systems. Accurate diagnosis and personalized management are crucial for supporting patients through complex decisions, such as those related to gender identity. This study represents the first comprehensive investigation into DSD in Iran, analyzing patient's clinical and genetic data between 1991 and 2020.
View Article and Find Full Text PDFNear telomere-to-telomere genome assemblies of Silkie Gallus gallus and Mallard Anas platyrhynchos restored the structure of chromosomes and "missing" genes in birds.
J Anim Sci Biotechnol
January 2025
Frontiers Science Center for Molecular Design Breeding (MOE), State Key Laboratory of Animal Biotech Breeding, and National Engineering Laboratory for Animal Breeding, College of Animal Science and Technology, China Agricultural University, Beijing, 100193, China.
Background: Chickens and ducks are vital sources of animal protein for humans. Recent pangenome studies suggest that a single genome is insufficient to represent the genetic information of a species, highlighting the need for more comprehensive genomes. The bird genome has more than tens of microchromosomes, but comparative genomics, annotations, and the discovery of variations are hindered by inadequate telomere-to-telomere level assemblies.
View Article and Find Full Text PDFIntroduction: Differences of sex development (DSD) is a group of rare congenital conditions defined by chromosomal, gonadal and/or phenotypic discordance or atypical sex. The mini-puberty, corresponding to the transient postnatal activation of the hypothalamic-pituitary-gonadal axis, is an important diagnosis window in the clinical workup of infants with DSD. First objective to compare clinical data as well as hormone levels during minipuberty between patients with and without a genetic diagnose.
View Article and Find Full Text PDFNeurodevelopmental 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.
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