PubMed:2918545 JSONTXT

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":139,"end":157},"obj":"HP_0001249"},{"id":"T2","span":{"begin":169,"end":175},"obj":"HP_0001251"},{"id":"T3","span":{"begin":183,"end":200},"obj":"HP_0040082"},{"id":"T4","span":{"begin":276,"end":307},"obj":"HP_0000007"},{"id":"T5","span":{"begin":276,"end":295},"obj":"HP_0000007"},{"id":"T6","span":{"begin":944,"end":965},"obj":"HP_0000007"},{"id":"T7","span":{"begin":944,"end":975},"obj":"HP_0000007"}],"text":"The association of Angelman's syndrome with deletions within 15q11-13.\nThe inheritance of Angelman's syndrome, a disorder characterised by mental retardation, epilepsy, ataxia, and a happy disposition, is debated because affected sibs occur less frequently than expected with autosomal recessive inheritance. After discovering two unrelated patients with a small deletion of the proximal long arm of chromosome 15, 10 further patients with Angelman's syndrome were reassessed. Five had apparently normal karyotypes, four had a deletion within 15q11-13, and one had a pericentric inversion, inv(15)(p11q13) involving the same chromosomal region. In the latter case, the healthy mother had the same pericentric inversion, indicating that the patient also had a submicroscopic mutation on his other chromosome 15. These data map the Angelman locus to 15q11-13 and suggest that de novo visible deletions (associated with a low recurrence risk) and autosomal recessively inherited cases combine to give an overall sib recurrence risk of less than 25%."}

{"project":"BioLarkPubmedHPO","denotations":[{"id":"HP:0001249","span":{"begin":139,"end":157},"obj":"HP:0001249"},{"id":"HP:0001275","span":{"begin":159,"end":167},"obj":"HP:0001275"},{"id":"HP:0001251","span":{"begin":169,"end":175},"obj":"HP:0001251"},{"id":"HP:0100024","span":{"begin":183,"end":200},"obj":"HP:0100024"},{"id":"HP:0000007","span":{"begin":944,"end":965},"obj":"HP:0000007"},{"id":"T1","span":{"begin":139,"end":157},"obj":"HP:0001249"},{"id":"T2","span":{"begin":159,"end":167},"obj":"HP:0001275"},{"id":"T3","span":{"begin":169,"end":175},"obj":"HP:0001251"},{"id":"T4","span":{"begin":183,"end":200},"obj":"HP:0100024"},{"id":"T5","span":{"begin":944,"end":965},"obj":"HP:0000007"},{"id":"T1","span":{"begin":139,"end":157},"obj":"HP:0001249"},{"id":"T2","span":{"begin":159,"end":167},"obj":"HP:0001275"},{"id":"T3","span":{"begin":169,"end":175},"obj":"HP:0001251"},{"id":"T4","span":{"begin":183,"end":200},"obj":"HP:0100024"},{"id":"T5","span":{"begin":944,"end":965},"obj":"HP:0000007"},{"id":"T1","span":{"begin":139,"end":157},"obj":"HP:0001249"},{"id":"T2","span":{"begin":159,"end":167},"obj":"HP:0001275"},{"id":"T3","span":{"begin":169,"end":175},"obj":"HP:0001251"},{"id":"T4","span":{"begin":183,"end":200},"obj":"HP:0100024"},{"id":"T5","span":{"begin":944,"end":965},"obj":"HP:0000007"}],"namespaces":[{"prefix":"HP:","uri":"http://compbio.charite.de/hpoweb/showterm?id=HP:"}],"text":"The association of Angelman's syndrome with deletions within 15q11-13.\nThe inheritance of Angelman's syndrome, a disorder characterised by mental retardation, epilepsy, ataxia, and a happy disposition, is debated because affected sibs occur less frequently than expected with autosomal recessive inheritance. After discovering two unrelated patients with a small deletion of the proximal long arm of chromosome 15, 10 further patients with Angelman's syndrome were reassessed. Five had apparently normal karyotypes, four had a deletion within 15q11-13, and one had a pericentric inversion, inv(15)(p11q13) involving the same chromosomal region. In the latter case, the healthy mother had the same pericentric inversion, indicating that the patient also had a submicroscopic mutation on his other chromosome 15. These data map the Angelman locus to 15q11-13 and suggest that de novo visible deletions (associated with a low recurrence risk) and autosomal recessively inherited cases combine to give an overall sib recurrence risk of less than 25%."}