The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

Battaglia, Agatino

doi:10.1186/1750-1172-3-30

Cited by 143 publications

(147 citation statements)

References 45 publications

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“…While the features are less specific than for AS or PWS, a clear syndrome is characterized by ASD, ID, abnormal speech development, behavioral disturbances, seizures, hypotonia, short stature, and attention deficit and hyperactivity disorder (ADHD). Concerningly, several cases of sudden death have been reported in individuals with 15q11.2-13.1 duplications [53] though the etiology of this phenomenon remains unknown. The duplication can occur by two mechanisms: (1) An additional supernumerary marker chromosome, also known as isodicentric chromosome 15 (IDIC15), with two extra copies leading to a total of four copies of the 15q11.2-13.1 region; and (2) An interstitial duplication leading to a total of three copies of the region.…”

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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“…The distinct behavioural disorder shown by children and adolescents has been widely described as autistic or autistic-like. 28 …”

Section: Inv Dup(15) or Idic(15) Syndromementioning

confidence: 99%

Genetic causes of syndromic and non‐syndromic autism

Çağlayan

2010

Develop Med Child Neuro

102

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Aims Over the past decade, genetic tests have become available for numerous heritable disorders, especially those whose inheritance follows the Mendelian model. Autism spectrum disorders (ASDs) represent a group of developmental disorders with a strong genetic basis. During the past few years, genetic research in ASDs has been successful in identifying several vulnerability loci and a few cytogenetic abnormalities or single‐base mutations implicated in the causation of autism. Method In this study the literature was reviewed to highlight genotype–phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Results Based on this knowledge, practical information is offered to help clinicians pursue targeted genetic testing of individuals with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology. Interpretation Comprehensive research into the molecular mechanism of autism is required to aid the development of disease‐specific targeted therapies. In order to transfer this recently acquired knowledge into clinical practice, it is critical to define a set of phenotypic inclusion criteria that must be met by affected probands to justify their enrolment in a specific genetic testing programme.

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“…Between 1994 and 2008, approximately 160 patients diagnosed with inverted (inv) dup (15) were characterized (Battaglia, 2008;Dennis et al, 2006;Webb, 1994;Webb et al, 1998;Wolpert et al, 2000a, b), and had a similar male:female ratio (3:1) to that reported in idiopathic autism (Bryson, 1996) and in probands with dup (15q) (Wolpert et al, 2000a).…”

Section: Clinical Characteristicsmentioning

confidence: 93%