Objective: To evaluate the conventional cytogenetic methods in genetic diagnosis and prenatal diagnosis in the family with a proband of Angelman syndrome (AS).
Methods: High-resolution G-banding karyotyping and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed.
Results: Two AS patients and 1 normal fetus in the family were successfully detected by FISH.
Conclusion: Our result demonstrated that patient with type I AS could be detected by combining the techniques of high-resolution G-banding and FISH with clinical observation, which would offer accurate genetic counseling information to the geneticists and provide the prenatal diagnosis for the AS family.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2009.05.006 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Additional value of fetal magnetic resonance imaging for prenatal diagnosis: A retrospective study.
Eur J Obstet Gynecol Reprod Biol
January 2025
Obstetrics and Fetal Medicine Unit, CHRU of Nancy, Nancy, France; Department of Fetopathology and Placental Pathology, CHRU of Nancy, Nancy, France; Inserm, Diagnostic and Interventional Adaptive Imaging, University of Lorraine, Nancy, France. Electronic address:
Objective: This study aimed to evaluate the utility of fetal MRI in prenatal diagnosis.
Methods: A retrospective study was conducted, including all pregnant women who underwent fetal MRI at a single French university center from 2018 to 2022. Fetal MRI findings were deemed "concordant" if they matched the ultrasound diagnosis.
Pilot work of the 10K Chinese People Genomic Diversity Project along the Silk Road suggests a complex east-west admixture landscape and biological adaptations.
Sci China Life Sci
January 2025
Institute of Rare Diseases, West China Hospital of Sichuan University, Sichuan University, Chengdu, 610000, China.
Genomic sources from China are underrepresented in the population-specific reference database. We performed whole-genome sequencing or genome-wide genotyping on 1,207 individuals from four linguistically diverse groups (1,081 Sinitic, 56 Mongolic, 40 Turkic, and 30 Tibeto-Burman people) living in North China included in the 10K Chinese People Genomic Diversity Project (10K_CPGDP) to characterize the genetic architecture and adaptative history of ethnic groups in the Silk Road Region of China. We observed a population split between Northwest Chinese minorities (NWCMs) and Han Chinese since the Upper Paleolithic and later Neolithic genetic differentiation within NWCMs.
View Article and Find Full Text PDFRetrospective Analysis of the Correlation between Umbilical Blood Flow Index and Maternal and Fetal Outcomes in Pregnant Women with Gestational Diabetes.
Br J Hosp Med (Lond)
January 2025
Department of Obstetrics and Gynecology, The First Clinical Medical College of Three Gorges University, Yichang Central People's Hospital, Yichang, Hubei, China.
Gestational diabetes mellitus (GDM) is a common complication during pregnancy. This retrospective study investigates the correlation between umbilical blood flow index and maternal-fetal outcomes in pregnant women with GDM, aiming to contribute to evidence-based risk assessment and management strategy in this high-risk obstetric population. This retrospective study recruited 119 pregnant women with GDM who were admitted to the Yichang Central People's Hospital, between January 2022 and January 2024.
View Article and Find Full Text PDFNavigating the complexities of managing placenta accreta spectrum: A case series and literature review.
Int J Gynaecol Obstet
January 2025
Department of Obstetrics and Gynaecology, Aga-Khan University of Hospital, Nairobi, Kenya.
Placenta accreta spectrum (PAS) poses a significant risk for maternal morbidity and mortality. There is a global rise in incidence of PAS in tandem with an increase in rates of cesarian section. Previous cesarian section and presence of placenta previa are two independent risk factors for development of PAS.
View Article and Find Full Text PDFSeroprevalence of TORCH Viral Agents in Pregnant Women in Turkey: Systematic Review and Meta-Analysis.
Pathogens
January 2025
Department of Medical Microbiology, Faculty of Medicine, Sakarya University, 54100 Sakarya, Turkey.
Rubella Virus, Cytomegalovirus (CMV), Herpes Simplex Virus-2 (HSV-2), Hepatitis B (HBV) and Hepatitis C virus (HCV) can cause serious fetal disease. The seropositivity rates of these agents vary among countries and geographic regions. This study aimed to analyze the prevalence rates and diagnostic methods used in studies investigating the seroprevalence of viral pathogens in the TORCH group among pregnant women in Turkey between 2005 and 2024.
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!