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| http://dx.doi.org/10.1038/ejhg.2009.170 | DOI Listing |
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Parents' Experiences and Views About Use of Wearable Technology for Research and Treatment Monitoring of Children with Neurodevelopmental Disorders.
J Dev Behav Pediatr
January 2025
Department of Paediatrics, The University of Melbourne, Melbourne, Australia.
Objective: Wearable technology has potential benefits for clinical measurement with children who have neurodevelopmental disorders (NDDs). However, this cohort may experience sensory processing disorder, behavioral dysregulation, and cognitive challenges. For effective and considerate implementation, the experiences and views of parents of children with NDDs on this topic need in-depth investigation.
View Article and Find Full Text PDFGenetics of Prader-Willi and Angelman syndromes: 2024 update.
Curr Opin Psychiatry
December 2024
Departments of Psychiatry &, Behavioral Sciences and Pediatrics, University of Kansas Medical Centre, Kansas City, Kansas, United States.
Purpose Of Review: Prader-Willi (PWS) and Angelman (AS) syndromes arise from errors in 15q11-q13 imprinting. This review describes recent advances in genomics and how these expand our understanding of these rare disorders, guiding treatment strategies to improve patient outcomes.
Recent Findings: PWS features include severe infantile hypotonia, failure to thrive, hypogonadism, developmental delay, behavioral and psychiatric features, hyperphagia, and morbid obesity, if unmanaged.
Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes.
J Mol Diagn
January 2025
Department of Laboratory Medicine and Pathology, University of Washington and Seattle Children's Hospital, Seattle, Washington; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, Washington; Department of Genome Sciences, University of Washington, Seattle, Washington; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, Washington. Electronic address:
Article Synopsis
- Current clinical testing for imprinting disorders is complicated and usually involves several tests to get a clear diagnosis.
- We explored the use of whole-genome long-read sequencing (LRS) as a single test to analyze different genetic variations and methylation patterns in individuals with Prader-Willi or Angelman syndrome.
- Our results showed that LRS can accurately diagnose these conditions efficiently and could simplify testing while lowering costs and speeding up results in clinical settings.
Hygienic behaviors and use of dental care in patients with genetic syndromes.
Sci Rep
December 2024
Department of Paediatric Dentistry, Medical University of Warsaw, St. Binieckiego 6, 02-097, Warsaw, Poland.
Patients with genetic syndromes require special dental attention because they have symptoms that promote plaque accumulation, dental erosion, dental caries and gingival diseases. The aim of the study was to assess hygienic behaviors, use of dental care and frequency of professional preventive procedures among Polish children and adolescents with Prader-Willi, Down, Angelman, Silver-Russell and Smith-Lemli-Opitz syndromes. Parents/legal guardians of children and adolescents with genetic syndromes were included.
View Article and Find Full Text PDFUniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).
J Assist Reprod Genet
December 2024
Department of Human Genetic, Altamedica, Rome, Italy.
Purpose: Uniparental disomy (UPD) is a genetic condition which both copies of a chromosome are inherited from a single parent, potentially leading to imprinting disorders. This study aimed to assess the integration of Short Tandem Repeat (STR) analysis into Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) to assess UPD risk and its impact on selecting euploid embryos for embryo transfer in couples with chromosomal translocations involving imprinted chromosomes.
Methods: This study evaluated three couples carrying balanced chromosomal translocations: 45,XX,der(13;14)(q10;q10), 46,XX,t(10;11)(q22;q13), and 45,XY,der(14;15)(q10;q10).
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