Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

Orellana, Carmen; Bernabeu, Jordi; Monfort, Sandra; Roselló, Mónica; Oltra, Silvestre; Ferrer, Irene; Quiroga, Ramiro; Martínez-Garay, Isabel; Martı́nez, Francisco

doi:10.1136/jmg.2007.054064

Cited by 25 publications

(21 citation statements)

References 7 publications

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“…Epilepsy is present in less than 25% of the patients. Brain magnetic resonance imaging (MRI) is abnormal in the majority of cases including ventricular dilatation, hypoplasia of the corpus callosum and, in one case, a simplified gyral pattern but no consistent brain abnormalities were obvious [17,34,35]. Paradoxically, in the present case, the prenatal phenotype of the duplication of 7q11.23 seems to be more severe than the reciprocal deletion and brain MRI detected a mild bilateral ventriculomegaly with Lissencephaly-type abnormalities at 21 wg.…”

Section: Discussionmentioning

confidence: 50%

Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

Marcato¹,

Turolla

Pompilii

et al. 2014

Clinical Case Reports

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Section: Discussionmentioning

confidence: 50%

Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

Marcato¹,

Turolla

Pompilii

et al. 2014

Clinical Case Reports

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“…Cleft lip and/or palate have been reported in three previous cases (6,11). Ventricular dilatation on brain imaging has been reported by several authors (5-7, 11, 13).…”

Section: Clinical Reportsmentioning

confidence: 85%

“…Therefore, the existence of the reciprocal microduplication syndrome is not unexpected. The first microduplication of 7q11.23 was reported in 2005 (3) and a total of 29 cases have been reported to date (4)(5)(6)(7)(8)(9)(10)(11)(12)(13). Speech delay and autistic features were identified in early publications and a recent paper (5) described the facial features in 14 patients and reviewed previous publications to conclude that patients with 7q11.23 microduplication have a recognizable facial phenotype.…”

mentioning

confidence: 99%

7q11.23 Microduplication: a recognizable phenotype

et al. 2012

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Williams-Beuren syndrome is a well-known microdeletion syndrome with a recognizable clinical phenotype. The subtle phenotype of the reciprocal microduplication of the Williams-Beuren critical region has been described recently. We report seven further patients, and a transmitting parent, with 7q11.23 microduplication. All our patients had speech delay, autistic features and facial dysmorphism consistent with the published literature. We conclude that the presence of specific dysmorphic features, including straight, neat eyebrows, thin lips and a short philtrum, in our patients with speech delay and autistic features provides further evidence that the children with 7q11.23 microduplication have a recognizable phenotype.

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“…In previous case studies, Kirchhoff et al (2007) reported a case of 'suspected Asperger syndrome', and Depienne et al (2007) reported a case of autism identified from screening 206 patients with autism spectrum disorders for this duplication. Among cases described to date, Orellana et al (2008) noted striking variability in phenotype, including good social skills in several individuals, but severe language delay as a highly consistent symptom.…”

Section: Williams Syndromementioning

confidence: 99%

ORIGINAL ARTICLE: Genomic sister‐disorders of neurodevelopment: an evolutionary approach

Crespi

Summers

Dorus

2009

Evolutionary Applications

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Genomic sister-disorders are defined here as diseases mediated by duplications versus deletions of the same region. Such disorders can provide unique information concerning the genomic underpinnings of human neurodevelopment because effects of diametric variation in gene copy number on cognitive and behavioral phenotypes can be inferred. We describe evidence from the literature on deletions versus duplications for the regions underlying the best-known human neurogenetic sister-disorders, including Williams syndrome, Velocardiofacial syndrome, and Smith–Magenis syndrome, as well as the X-chromosomal conditions Klinefelter and Turner syndromes. These data suggest that diametric copy-number alterations can, like diametric alterations to imprinted genes, generate contrasting phenotypes associated with autistic-spectrum and psychotic-spectrum conditions. Genomically based perturbations to the development of the human social brain are thus apparently mediated to a notable degree by effects of variation in gene copy number. We also conducted the first analyses of positive selection for genes in the regions affected by these disorders. We found evidence consistent with adaptive evolution of protein-coding genes, or selective sweeps, for three of the four sets of sister-syndromes analyzed. These studies of selection facilitate identification of candidate genes for the phenotypes observed and lend a novel evolutionary dimension to the analysis of human cognitive architecture and neurogenetic disorders.

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Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

Cited by 25 publications

References 7 publications

Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

7q11.23 Microduplication: a recognizable phenotype

ORIGINAL ARTICLE: Genomic sister‐disorders of neurodevelopment: an evolutionary approach

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