Background: Generally, the translocation of SRY onto one of the X chromosomes leads to 46, XX testicular disorders of sex development, a relatively rare condition characterized by the presence of testicular tissue with a 46, XX karyotype. Three prenatal cases of unbalanced X; Y translocation carrying SRY were identified in this study.
Methods: Structural variants were confirmed using single nucleotide polymorphism array and chromosomal karyotyping. X chromosome inactivation (XCI) was also analyzed. Detailed clinical features of the three cases were collected.
Results: We identified two fetuses with maternal inherited unbalanced X; Y translocations carrying SRY and skewed XCI presenting with normal female external genitalia, and one fetus with de novo 46, XX (SRY+) and random XCI manifested male phenotypic external genitalia.
Conclusion: This study reports that cases with unbalanced X; Y translocations carrying SRY manifested a normal female external genitalia in a prenatal setting. We speculate that the skewed XCI mediates the silence of SRY. In addition, our study emphasizes that combining clinical findings with pedigree analysis is critical for estimating the prognosis of fetuses with sex chromosome abnormalities.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pd.6520 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
PACAP38 synergizes with irradiation to suppress the proliferation of multiple cancer cells via regulating SOX6/Wnt/β-catenin signaling.
Front Pharmacol
October 2024
Department of Radiation Oncology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Background: Pituitary adenylate cyclase-activating polypeptide PACAP) 38 is an endogenous neuropeptide with diverse functions, notably its critical role in inhibiting tumor proliferation. Radiotherapy is an important step in the standard treatment modality of many tumors. Combining radiotherapy with therapeutic agents represents a new and promising trend aimed at enhancing radiation sensitivity and improving tumor treatment efficacy.
View Article and Find Full Text PDFDynamic visualization of DNA methylation in cell cycle genes during iPSC cardiac differentiation.
Epigenomics
December 2024
Division of Cardiology, Department of Medicine, University of Washington, Seattle, WA, USA.
Background: Existing analyses with conventional assays have generated significant insights into static states of DNA methylation but were unable to visualize the dynamics of epigenetic regulation.
Materials & Results: We utilized a genomic DNA methylation reporter (GMR) system carrying Snrpn minimal promoter and CpG regions of (Cyclin-dependent kinase 1) or (SRY-Box Transcription Factor 2). Mouse Sox2 GMR iPSCs rapidly lost fluorescent reporter signal upon the induction of cardiac differentiation.
[Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with Complete androgen insensitivity syndrome due to a novel variant of AR gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2024
Department of Gynecology and Obstetrics, Tianjin Medical University General Hospital, Tianjin Key Laboratory of Female Reproductive Health and Birth Health, Tianjin Medical University General Hospital, Tianjin 300052, China.
Article Synopsis
- The study aimed to investigate the clinical and molecular aspects of a Chinese family affected by Complete Androgen Insensitivity Syndrome (CAIS), focusing on a specific genetic variant.
- The proband, an 18-year-old female with a 46,XY karyotype, lacked female reproductive organs and was found to carry a heterozygous variant in the AR gene, which was confirmed in her mother and sister.
- The findings suggested that the genetic variant is likely pathogenic and highlights the importance of understanding clinical symptoms and genetics in diagnosing sex development disorders.
Experimental study on small molecule combinations inducing reprogramming of rat fibroblasts into functional neurons.
Zhejiang Da Xue Xue Bao Yi Xue Ban
August 2024
School of Life Sciences, Bengbu Medical University, Bengbu 233030, Anhui Province, China.
Article Synopsis
- - Scientists want to turn rat skin cells into neurons using special chemicals to help treat diseases that affect the brain.
- - They improved their method by changing what the cells are grown on and by adding protective substances, which made more cells survive and turn into neuron-like cells.
- - With the new technique, they saw a big increase in both how many cells lived and how many became like neurons, showing success in their experiment.
Impact of gallbladder hypoplasia on hilar hepatic ducts in biliary atresia.
Commun Med (Lond)
June 2024
Department of Veterinary Anatomy, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Background: Biliary atresia (BA) is an intractable disease of unknown cause that develops in the neonatal period. It causes jaundice and liver damage due to the destruction of extrahepatic biliary tracts,. We have found that heterozygous knockout mice of the SRY related HMG-box 17 (Sox17) gene, a master regulator of stem/progenitor cells in the gallbladder wall, exhibit a condition like BA.
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!