Objective: To determine the origin of two prenatally detected small supernumerary marker chromosomes (sSMCs).
Methods: The sSMCs were analyzed with combined G-banding, C-banding, fluorescence in situ hybridization (FISH), and single nucleotide polymorphisms array (SNP-array) techniques.
Results: In case 1, G-banding analysis has identified a 47,XY,+mar karyotype. Affymetrix CytoScan 750K Array scan has suggested arr 15q11.2q12(22 770 421-26 604 587)?, while FISH analysis suggested 47,XN,+mar.ish i(15)(q12)(D15Z1+,SNRPN++,PML-). In case 2, G-banding analysis has suggested 46,X,+mar/46,XY, FISH analysis showed two SRY hybridization signals, indicating 46,X,i(Y)(p10)/46,XY.
Conclusion: Multiple techniques needed be applied for verification of the origin of sSMCs identified in prenatal diagnosis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2016.04.015 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Prevalence of overt and occult hepatitis B viral infection among pregnant women attending antenatal clinics in Edo state university teaching hospital Auchi, Nigeria.
BMC Infect Dis
December 2024
Department of Medical Laboratory Science, Faculty of Applied Health Sciences, Edo State University, Uzairue, Edo State, Nigeria.
Background: Hepatitis B virus (HBV) infection remains a major health challenge in Nigeria, with high prevalence rates among pregnant women. The prevalence of overt and occult hepatitis B infection (HBI and HBI) among pregnant women was investigated to understand the burden and associated risk factors in this population.
Methods: A cross-sectional study was conducted among 200 pregnant women.
Clinical Characteristics and Treatment of Gastric Duplications in Children.
J Pediatr Surg
December 2024
Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Background: Gastric duplication (GD) is a rare congenital gastrointestinal malformation, and usually identified in childhood. This study aimed to investigate the clinical characteristics and treatment of GDs in children.
Methods: A retrospective review was conducted of medical records of 38 patients with the diagnosis of GD, treated in the Department of General Surgery, Children's Hospital of Zhejiang University School of Medicine, within the period from August 2013 to December 2023.
Effects of Gestational Diabetes Mellitus on Fetal Cardiac Morphology.
Med Sci (Basel)
December 2024
Department of Perinatology, Ege University, İzmir 35000, Turkey.
Objective: This study aims to investigate the possible effects of gestational diabetes mellitus (GDM) on fetal heart structure and the relationship of this effect with maternal blood sugar control.
Materials And Methods: In this cross-sectional study, 19 women with GDM at 24-36 weeks of gestation (case group) and 21 healthy pregnant women at the same weeks of gestation (control group) were examined. Fetal heart structure was evaluated by ultrasonography; interventricular septum (IVS) thickness, right and left ventricular sphericity indices, global sphericity index (GSI) and cardio-thoracic ratio were also measured.
Sensing Platform Based on Gold Nanoclusters and Nanoporous Anodic Alumina for Preeclampsia Detection.
Biosensors (Basel)
December 2024
Department of Electronics, Electric, and Automatic Engineering, Rovira I Virgili University (URV), 43007 Tarragona, Spain.
Preeclampsia is a pregnancy-specific hypertensive syndrome recognized as the leading cause of maternal and fetal morbidity worldwide. Early diagnosis is crucial for mitigating its adverse effects, and recent investigations have identified endoglin as a potential biomarker for this purpose. Here, we present the development of a hybrid biosensor platform for the ultrasensitive detection of endoglin, aimed at enabling the early diagnosis of preeclampsia.
View Article and Find Full Text PDFA Rare Case of Fetal Neural Tube Defect; Iniencephaly Clausus.
AJP Rep
July 2024
Department of Obstetrics and Gynecology, College of Medicine and Health Sciences, Bahir Dar University, Bahir Dar, Ethiopia.
Iniencephaly is an extremely rare type of neural tube defect characterized by the fusion of the cervical and cervicothoracic vertebrae. This condition results in acute retroflexion of the head, a short neck, significant lordosis of the cervical spine, and an upturned facial appearance. This condition typically results in poor fetal outcomes, with many cases ending in stillbirth or neonatal death.
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!