Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county

Petersen, Michael B.; Brøndum‐Nielsen, Karen; Hansen, Lars; Wulff, Karl

doi:10.1002/ajmg.1320600317

Cited by 122 publications

(87 citation statements)

References 8 publications

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“…A deletion on the maternal chromosome results in Angelman syndrome (AS), which is diagnosed in 1 in 10,000 to 1 in 20,000 live births [34,35]. This syndrome was first described in 1965 [36] by the combination of distinctive behaviors and symptoms in three children.…”

Section: Q112-131: Syndromes That Vary With Imprintingmentioning

confidence: 99%

Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci

et al. 2014

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Copy number variants (CNVs) have been identified as a major risk factor in neuropsychiatric disorders. In this review, we describe the phenotypes and syndromic features associated with CNVs at four of the bestcharacterized risk loci for these disorders: 15q11.2-13.1, 22q11.2, 16p11.2, and 7q11.23. By considering the reported prevalence of these CNVs in autism, intellectual disability, schizophrenia, and controls, we demonstrate a pattern of asymmetric shared risk in which CNVs increase the risk of multiple disorders but to differing degrees. This asymmetric risk sharing is incompatible with a model in which CNVs observed in autism or schizophrenia are secondary to a reduction in IQ, but favors a more complex relationship between individual CNVs and specific neuropsychiatric phenotypes. Finally, we discuss how the lessons learned from CNVs in neuropsychiatric disorders will translate to the expanding list of genes being associated with these disorders through exome sequencing.

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Section: Q112-131: Syndromes That Vary With Imprintingmentioning

confidence: 99%

Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci

et al. 2014

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“…Chromosome rearrangements may be inherited or de novo. Prenatal testing is A ngelman syndrome (AS) is seen in one in 12,000 -20,000 of the population [1][2][3] and is characterized by severe developmental delay and speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with a happy demeanor that includes frequent laughing, smiling, and excitability. 4 -7 In addition, microcephaly and seizures are common.…”

mentioning

confidence: 99%

Clinical and genetic aspects of Angelman syndrome

Williams

Driscoll

Dagli

2010

Genetics in Medicine

281

235

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“…3 In recent years clearer delineation of the clinical phenotype of Angelman syndrome and improved diagnostic testing has led to improved recognition of the condition and the incidence of Angelman syndrome is now estimated to be between 1 in 10 000 and 1 in 40 000. [4][5][6][7] Studies of the specific cognitive and behavioural features associated with AS 8 and of the seizure disorder have improved management of the condition and provided insight into the long term outlook for affected patients. Molecular genetic studies have begun to elucidate the role of genes within the 15q11-13 region in the pathophysiology of Angelman syndrome 9 and have also shed light on the more general phenomenon of genomic imprinting.…”

mentioning

confidence: 99%