A male child has been identified with Angelman syndrome. He has been shown to carry a de novo Robertsonian 15/15 translocation where both chromosome 15s have been derived from the father. Consequently the disease in this instance is due to paternal uniparental disomy.
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Three-Dimensional Gait Analysis of School-Age Children With Angelman Syndrome: A Case-Control Study.
Am J Med Genet A
January 2025
Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Gait disturbance is a common motor symptom in Angelman syndrome (AS), but its characteristics have been poorly studied quantitatively. This study aimed to analyze gait characteristics in school-age children with AS using three-dimensional gait analysis (3DGA). Patients with clinically and genetically confirmed AS and healthy children aged 6-15 years were included.
View Article and Find Full Text PDFClinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.
Genes (Basel)
November 2024
Laboratório de Citogenética Clínica, Centro de Genética Médica, Instituto Nacional da Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.
Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of live births.
View Article and Find Full Text PDFConcordance 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, WA, USA; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA. 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.
Differences in structure, dynamics and Zn-coordination between isoforms of human ubiquitin ligase UBE3A.
J Biol Chem
December 2024
Department of Molecular Biology and Biophysics, UCONN Health, Farmington, CT 06032, USA. Electronic address:
Article Synopsis
- UBE3A/E6AP expression abnormalities are linked to neurological disorders like Angelman syndrome and autism, with three protein isoforms existing that have unique functions and cellular roles.
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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.
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