We describe the phenotypic features in a newborn infant with an unbalanced translocation 46,XY, der(22) inv(4) (p14p16.1) t(4;22) (p15.1;q13.31)pat. The phenotype was consistent with partial trisomy 4p syndrome. Severe bilateral hydronephrosis was diagnosed at a 31 week prenatal ultrasound scan. Both the patient phenotype and the partial trisomy are unusual, the latter due to the complex nature of the chromosomal rearrangement.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/01.mcd.0000072162.33788.8d | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Impact of a new image enhancement technology on the nuchal translucency thickness.
Arch Gynecol Obstet
January 2025
Department of Obstetrics and Gynaecology, University Hospital Tübingen, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany.
Objective: To examine the impact of a new image enhancement technique on the distribution of NT measurements.
Methods: In this retrospective study, nuchal translucency (NT) images that were taken with the GE Voluson E22 ultrasound machine between May and September 2024 were collected. One operator took manual and automated NT measurements in an NT image without radiant enhancement mode followed by automated measurements in NT images with minimum, medium and maximum radiant mode.
Making Sense of a Prenatal Detection of Trisomy 16 Mosaicism in the Placenta: A Qualitative Study of Pregnant Women's Decision Making.
Prenat Diagn
January 2025
Department of Clinical Medicine, Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark.
Objective: Prenatal detection of Trisomy 16 mosaicism (MosT16) in a Chorionic Villus Sample (CVS) results may cause significant anxiety for expectant parents due to the risk of fetal malformation and fetal growth restriction (FGR). The aim of this study was to investigate the experiences and decision-making of women receiving a MosT16 results during pregnancy.
Methods: In-depth, semi-structured interviews with eight Danish women who received a MosT16 CVS results.
[Prenatal diagnosis of trisomy 21: Influence of pediatric counseling of pregnant women and contact with families who have an affected child].
Z Geburtshilfe Neonatol
January 2025
Neonatologie, Universitätsklinikum Erlangen, Kinder- und Jugendklinik, Erlangen, Germany.
The widespread use of non-invasive prenatal testing (NIPT) has turned prenatal diagnostics for chromosomal abnormalities from the exception to the rule. A common finding is the suspicion of trisomy 21 in the fetus, which should result in the offer of multidisciplinary counseling. The significance of this for decision-making by the pregnant woman has not yet been investigated.
View Article and Find Full Text PDFClosure of ventricular septal defect in children with trisomy 18: perioperative events and long-term survival.
Interdiscip Cardiovasc Thorac Surg
January 2025
Department of Pediatrics, Kansai Medical University, Hirakata, Osaka, Japan.
Objectives: This retrospective study aimed to investigate the feasibility of surgical closure of ventricular septal defect in children with trisomy 18 by assessing perioperative events and long-term survival.
Methods: From April 2008 to March 2024, 41 consecutive patients were referred to us for ventricular septal defect surgery. The defect was closed in 35 patients at the end (median age, 16 months; median body weight, 5.
Imaging Flow Cytometric Identification of Chromosomal Defects in Paediatric Acute Lymphoblastic Leukaemia.
Cells
January 2025
School of Biomedical Sciences, The University of Western Australia, Crawley, WA 6009, Australia.
Acute lymphoblastic leukaemia is the most common childhood malignancy that remains a leading cause of death in childhood. It may be characterised by multiple known recurrent genetic aberrations that inform prognosis, the most common being hyperdiploidy and t(12;21) . We aimed to assess the applicability of a new imaging flow cytometry methodology that incorporates cell morphology, immunophenotype, and fluorescence in situ hybridisation (FISH) to identify aneuploidy of chromosomes 4 and 21 and the translocation .
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!