Search results for "genetic syndrome"
showing 5 items of 5 documents
Laboratory investigations in genetic syndromes: examples of clinical approach in the neonatal unit.
2010
Contiguous gene deletion syndromes: the importance of an accurate genetic definition for a careful clinical monitoring. Contiguous gene deletion syndromes are so named because the deletion manifests as a distinctive cluster of otherwise unrelated single-gene disorders in the same subject. An accurate genetic definition of the deleted region is extremely important for the appropriate management of these patients and for unravelling the function of the involved genes. The microarray-based comparative genomic hybridization (CGH arrays) analysis is the actual molecular method able to accurately define the bounds of a deleted region, since it allows an evaluation of DNA copy number alterations a…
Correlates of Sedentary Behaviour in Adults with Intellectual Disabilities—A Systematic Review
2018
Individuals with intellectual disabilities (ID) are at high risk for high levels of sedentary behaviour. To inform the development of programmes to reduce sedentary behaviour, insight into the correlates is needed. Therefore, the aim of this study is to review the evidence on correlates of sedentary behaviour in adults with ID. We performed a systematic literature search in Ovid Medline, Ovid Embase, Web of Science and Google Scholar up to 19 January 2018, resulting in nine included studies that were published from 2011 to 2018. Correlates were categorized according to the ecological model. Studies predominantly focused on individual level correlates. Of those correlates studied in more tha…
Das Kagami-Ogata-Syndrom: Eine Rippenanomalie als pathognomonisches Korrelat für die klinische Diagnose eines (epi)genetischen Syndroms
2019
ZusammenfassungInnerhalb von 4 Jahren (2014–2017) haben wir 2 Neugeborene mit der genetisch gesicherten Diagnose eines Kagami-Ogata-Syndroms (OMIM #608149) betreut. Pränatal fielen bei beiden Föten ein Polyhydramnion und in einem Fall eine Hepatomegalie auf. Beide Patienten litten postnatal unter einer respiratorischen Insuffizienz und wiesen mit einer Muskelhypotonie, einem vorspringenden Philtrum, vollen Wangen sowie einer breiten Nasenwurzel die typischen phänotypischen Merkmale dieses Imprinting-Defekts auf. Wegweisend für die Diagnosestellung waren die kleiderbügelförmigen Rippen („coat-hanger ribs“) und der glockenförmige Thorax (bell-shaped thorax) im Röntgenbild. Das Kagami-Ogata-Sy…
Genetic syndrome suspicion: examples of clinical approach in the neonatal unit.
2010
Overgrowth syndromes: the practical clinical approach. Excessive growth can be present in a variety of medical conditions as result of abnormal fetal metabolism (i.e., maternal gestational diabetes) or of an overgrowth syndrome. Within this latter group of diseases, a LGA newborn requires a complex differential diagnosis encompassing several syndromes, such as Beckwith-Wiedemman, Sotos, Weaver, Simpson-Golabi-Behmel, Perlman, and Bannayan-Riley-Ruvalcaba. Partial or global overgrowth, other dysmorphisms, abdominal organs anomalies, as well as benign and malignant tumors are the common issues to examine for the diagnosis and the monitoring of all these disorders. The molecular bases of these…
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
2021
Knowledge about genetic predisposition to pediatric cancer is constantly expanding. The categorization and clinical management of the best-known syndromes has been refined over the years. Meanwhile, new genes for pediatric cancer susceptibility are discovered every year. Our current work shares the results of genetically studying the germline of 170 pediatric patients diagnosed with cancer. Patients were prospectively recruited and studied using a custom panel, OncoNano V2. The well-categorized predisposing syndromes incidence was 9.4%. Likely pathogenic variants for predisposition to the patient’s tumor were identified in an additional 5.9% of cases. Additionally, a high number of pathogen…