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Incidentally revealing of CHD in a 52 year-old man: Case report and literature review.
Radiol Case Rep
October 2024
Emergency Department, Cheikh Khalifa International University Hospital, Casablanca, Morocco.
Congenital hernia of the diaphragmatic dome is defined as a congenital embryopathy where all or part of the diaphragmatic dome fails to form during embryonic development. The classification is based on the location of the defect in the diaphragm. In this report, we present a case of Morgani hernia in a 52-year-old man whose sole initial symptom was dyspnea, occurring within the context of a SARS-CoV-2 (COVID-19) infection.
View Article and Find Full Text PDFInvasive prenatal diagnosis in the era of cell-free fetal DNA: experience at a single center.
Minerva Obstet Gynecol
October 2023
Unit of Fetal Medicine, Department for Women and Child Health, Careggi University Hospital, Florence, Italy.
Background: We aimed to assess procedure-related risk of fetal loss associated with amniocentesis and chorionic villus sampling and compare amniocentesis and chorionic villus sampling with cell-free fetal DNA in identifying chromosomal abnormalities.
Methods: A retrospective observational study on 4712 women with singleton pregnancy who underwent invasive prenatal diagnosis, from January 2010 to December 2019. Postprocedural miscarriage rate (before 24 weeks gestation) was determined for the whole population and for the group of women aged ≥35 years who underwent the procedure for the sole maternal age.
Mutational Profile Enables the Identification of a High-Risk Subgroup in Myelodysplastic Syndromes with Isolated Trisomy 8.
Cancers (Basel)
July 2023
IBSAL, IBMCC, CSIC, Cancer Research Center, University of Salamanca, 37007 Salamanca, Spain.
Trisomy 8 (+8) is the most frequent trisomy in myelodysplastic syndromes (MDS) and is associated with clinical heterogeneity and intermediate cytogenetic risk when found in isolation. The presence of gene mutations in this group of patients and the prognostic significance has not been extensively analyzed. Targeted deep sequencing was performed in a cohort of 79 MDS patients showing isolated +8.
View Article and Find Full Text PDFLarge Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.
Cytogenet Genome Res
November 2023
Greenwood Genetic Center, Greenwood, South Carolina, USA.
Chromosome 2p (chr2p) duplication, also known as trisomy 2p, is a rare chromosome abnormality associated with developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most of the reported cases involving trisomy 2p include additional copy number variants (CNVs) in other regions of the genome and are usually small in size. Little is known about the clinical outcomes of large duplications of chr2p as the sole cytogenetic abnormality.
View Article and Find Full Text PDF45,X/46,XX at amniocentesis associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and in different amniocenteses and a favorable fetal outcome with a normal karyotype at birth.
Taiwan J Obstet Gynecol
July 2023
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Objective: We present 45,X/46,XX at amniocentesis associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and in different amniocenteses and a favorable fetal outcome with a normal karyotype at birth.
Case Report: A 35-year-old, gravida 3, para 2, woman underwent amniocentesis at 20 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X[11]/46,XX[108], consistent with 9.
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