AI Article Synopsis
- Terminal deletions of chromosome 7, particularly in the long arm (7q36.3), are linked to conditions like hypotelorism and holoprosencephaly due to the SHH gene.
- More proximal deletions in the 7q36.1q36.2 region are rarer and may not be detected using standard subtelomeric MLPA analysis.
- A case is presented of a 9-year-old girl with a specific 5.27 Mb deletion in this region, showing unique symptoms such as mental retardation and long QT syndrome linked to the loss of the KCNH2 gene, indicating potential for clinical diagnosis.
Article Abstract
Terminal deletions of the long arm of chromosome 7 are well known and are frequently associated with hypotelorism or holoprosencephaly due to the involvement of the SHH gene located in 7q36.3. These deletions are easily detectable with routine subtelomeric MLPA analysis. Deletions affecting a more proximal part of 7q36, namely bands 7q36.1q36.2 are less common, and may be missed by subtelomeric MLPA analysis. We report a 9-year-old girl with a 5.27 Mb deletion in 7q36.1q36.2, and compare her to literature patients proposing a phenotype characterized by mental retardation, unusual facial features, renal hypoplasia and long QT syndrome due to loss of the KCNH2 gene. These characteristics are sufficiently distinct that the syndrome may be diagnosed on clinical grounds.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.32197 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society.
Neuromolecular Med
January 2025
Department of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, CA, USA.
Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research, the T21 Research Society (T21RS), established in 2014, unites a worldwide community dedicated to understanding the impact of T21 on biological systems and improving the quality of life of people with DS across the lifespan. T21RS hosts an international conference every two years to support collaboration, dissemination, and information sharing for this goal.
View Article and Find Full Text PDFCongestive myelopathy secondary to epidural venous engorgement and venous congestion in a patient with Budd-Chiari syndrome and its management through inferior vena cava stenting.
BMJ Case Rep
January 2025
Radiodiagnosis and Interventional Radiology, AIIMS Bhubaneswar, Bhubaneswar, Odisha, India.
Budd-Chiari syndrome with obstruction in the inferior vena cava causes increased venous pressure in the azygous-hemiazygous system and paravertebral venous plexus, which is transmitted to the epidural venous plexus, devoid of the valves. It causes epidural venous plexus engorgement and venous congestion and may present rarely with low back pain or radiating pain. However, patients developing lower limb weakness as a complication of Budd-Chiari syndrome is an infrequent and severe presentation.
View Article and Find Full Text PDFFetal long QT syndrome.
Heart Rhythm
January 2025
Departments of Pediatrics and Surgery, University of Arizona College of Medicine, Tucson, Arizona. Electronic address:
A systematic review and meta-analysis of endovascular treatment of carotid blowout syndrome.
J Clin Neurosci
January 2025
Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing 100053, China; China International Neuroscience Institute (China-INI), Beijing 100053, China; Department of Interventional Neuroradiology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China. Electronic address:
Unlabelled: Carotid Blowout Syndrome (CBS) is a rare and life-threatening condition that necessitates prompt intervention to prevent fatal hemorrhage. This study compares the outcomes of two primary endovascular approaches: reconstructive interventions, which aim to preserve carotid artery function using stents or balloon angioplasty, and deconstructive interventions, which involve vessel occlusion to halt bleeding. A systematic review and meta-analysis were performed by searching multiple databases for relevant studies published from January 2000 to August 2023.
View Article and Find Full Text PDFAtrial Fibrillation-Related Bradycardia and/or Bradycardia-Related Atrial Fibrillation: When and How to Intervene.
Curr Vasc Pharmacol
January 2025
Department of Cardiology, Athens University School of Medicine, Athens, Greece.
Introduction/objective: Atrial fibrillation (AF) could present with slow ventricular-response; bradycardia could facilitate the emergence of AF. The conviction that one "does not succumb" from bradycardia as an escape rhythm will emerge unless one sustains a fatal injury following syncope is in stark difference with ventricular tachyarrhythmia (VA), which may promptly cause cardiac arrest. However, this is not always the case, as a life-threatening situation may emerge during the bradycardic episode, i.
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!