Imprinting disorders associated with molecular changes on chromosome 11p15 / / Rosanna Weksberg

• Record Nr.: UNINA9910887856403321
• Autore: Weksberg Rosanna
• Pubbl/distr/stampa: London, : Henry Stewart Talks, 2014
• Descrizione fisica: 1 online resource (1 streaming video file (37 min.) : color, sound)
• Collana: Molecular genetics of human disease, , 2056-452X
• Soggetti: Epigenetics; Genetic disorders; Genomic imprinting; Medical genetics; Molecular genetics; Beckwith-Wiedemann Syndrome; Chromosomes, Human, Pair 11 - genetics; Epigenesis, Genetic; Genomic Imprinting - genetics; Molecular Diagnostic Techniques; Mosaicism; Silver-Russell Syndrome
• Lingua di pubblicazione: Inglese
• Formato: Videoregistrazione
• Livello bibliografico: Monografia
• Note generali: Animated audio-visual presentation with synchronized narration.; Title from title frames.
• Nota di contenuto: Contents: What is epigenetics? -- Epigenetic regulation forms the molecular basis for genomic imprinting -- What is genomic imprinting -- Imprinted genes in early development -- Genomic organization of imprinted genes -- Imprinting center -- Imprinted domain 1 on chromosome 11p15.5 -- Complexity of imprinted clusters -- Beckwith-Wiedemann syndrome (BWS) -- BWS: a complex, clinically heterogeneous disorder -- Molecular basis of BWS -- Etiology of the Beckwith-Wiedemann syndrome -- Molecular alterations associated with BWS -- Frequency of molecular alterations in BWS -- The risks to subfertile/ART treated parents -- Subfertility/assisted reproductive ; technologies (ART) -- BWS molecular defects -- Multiple phenotypes associated with somatic mosaicism for 11p15 UPD -- Somatic mosaicism -- Isolated hemihyperplasia -- High level constitutional UPD -- BWS molecular testing strategies -- Laboratory testing for BWS -- MS-MLPA -- Expected methylation results from MS-MLPA -- MLPA molecular testing for BWS -- Cancer risk & surveillance -- Prenatal testing options -- Current challenges in BWS molecular testing -- Frequency of CNVs according to methylation pattern -- Monozygotic twins and BWS -- Isolated hemihyperplasia -- Current challenges in chromosome 11p15 molecular testing -- Russell-Silver syndrome (RSS -- Chromosomal regions associated with RSS -- Targeted assays of multiple imprinted loci-BWS -- Different combinations of epigenetic alterations associated with variations in clinical phenotype -- Imprint deregulation causing disease in humans.