7q11.23 Microduplication: a recognizable phenotype

Dixit, Abhijit; McKee, Shane; Mansour, Sahar; Mehta, SG; Tanteles, George A.; Anastasiadou, Violetta; Patsalis, PC; Martin, Katherine; McCullough, S; Suri, Mohnish; Sarkar, Ajoy K.

doi:10.1111/j.1399-0004.2012.01862.x

Cited by 30 publications

(43 citation statements)

References 21 publications

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“…This could explain why some patients with a duplication of the entire 7q11.23 region ( fig. 1 C) did not manifest a more severe phenotype when compared with those patients with a shorter duplication [Berg et al, 2007;Dixit et al, 2013].…”

Section: Discussionmentioning

confidence: 99%

Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation

et al. 2016

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Chromosome 7q11.23 duplication syndrome is a well-recognised syndrome which involves the duplication of the same genes located in the Williams-Beuren critical region. However, in 2010, 4 patients were reported with a microduplication only in the HIP1 and YWHAG genes. We refer to this as a distal 7q11.23 duplication (dup7q11.23D). Here, we report the fifth de novo patient with dup7q11.23D, whose symptoms may be explained by YWHAG overexpression as was demonstrated recently in mice and obese patients. Finally, further studies will be necessary to delineate this emerging microduplication syndrome.

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Section: Discussionmentioning

confidence: 99%

Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation

et al. 2016

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“…6 Estas manifestaciones fenotípicas aluden a la posible presencia de genes sensibles a dosis asociados en el desarrollo del lenguaje dentro de esta región. 6 Otros hallazgos típicos descritos incluyen anomalías menores craneofaciales, como frente prominente, cejas rectas, enoftalmos, nariz alta y ancha, labio superior delgado y filtrum corto. 4,7 Estos hallazgos son compatibles con el fenotipo facial de la paciente actualmente reportada.…”

Section: Discussionunclassified

“…A diferencia de cuando se presenta la microduplicación, se observan los hallazgos fenotípicos opuestos (previamente descritos), y es muy acentuado en el déficit para el desarrollo del lenguaje y en la interacción social. 4,6,9 Sin embargo, en similitud a otros síndromes por microduplicaciones, el fenotipo expresado por los pacientes con duplicación de la región Williams-Beuren tiende a ser más suave con una expresividad muy variable, particularmente al compararlos con su correspondiente síndrome por microdeleción. Esto se considera que es la causa por la cual son escasos los reportes encontrados en la literatura y se cree que es el motivo de su subdiagnóstico.…”

Section: Discussionunclassified

“…6,10 La inclusión de los estudios en array ha reemplazado los estudios de cariotipo de alta resolución como test inicial de evaluación de menores con autismo, y se han identificado alteraciones en 7%-20% de los casos previamente clasificados como de causa desconocida. 11 En los casos de la pesquisa diagnóstica en los individuos con déficit cognitivo, su impacto ha sido contundente y ha pasado a ser considerado uno de los estudios que se deben realizar a principios de la evaluación diagnóstica y cuya utilidad es particularmente relevante en individuos en los que el análisis citogenético convencional ha sido negativo.…”

Section: Discussionunclassified

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Síndrome de duplicación 7q11.23. Primer caso descrito en América Latina

2016

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RESUMENEl síndrome de duplicación 7q11.23 es una patología causada por la duplicación de una región del cromosoma 7 que comprende 26 genes. El primer caso descrito en la literatura fue reportado por Somerville et al., en el año 2005, quienes describieron un paciente con dolicocefalia, frente alta y estrecha, pestañas largas, nariz alta y ancha, filtrum corto, paladar ojival, maloclusión dental, retrognatia y retardo grave en el lenguaje. Presentamos una paciente colombiana con hallazgo de duplicación 7q11.23 mediante técnicas de hibridación genómica comparativa y hallazgos clínicos clásicos. Este es el primer caso comunicado en Colombia y en América Latina. ABSTRACT 7q11.23 duplication syndrome is a disease caused by duplication of a region of chromosome 7 comprising 26 genes. The first case described in the literature was reported by Somerville et al. in 2005, who described a patient with dolichocephaly, high and narrow forehead, long eyelashes, high and wide nose, short philtrum, high arched palate, dental malocclusion, retrognathia, and severe language delay. We report the case of a Colombian patient with 7q11.23 duplication by comparative genomic hybridization techniques, and classical clinical findings, this being the first reported case in Colombia and Latin America.

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“…Because the WBS microdeletion is caused by NAHR between LCRs, the existence of the reciprocal microduplication syndrome is not unexpected [Dixit et al, 2013]. Microduplication of the 7q11.23 region, known as Sommerville-van der AA syndrome (OMIM 609757), was first reported by Somerville et al [2005].…”

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confidence: 99%

Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis

Huang

Luo

et al. 2015

Mol Syndromol

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Williams-Beuren syndrome (WBS) manifests as supravalvular aortic stenosis, intellectual disability, developmental delay and characteristic facial features. The common WBS deletion region ranges from 1.55 to 1.84 Mb and primarily contains the ELN gene. We analyzed 10 patients diagnosed with 7q11.23 microdeletion syndrome by chromosomal microarray analysis. The clinical features of these patients varied from classic WBS to normal phenotype. All 10 patients exhibited different sizes and breakpoints of chromosome microdeletions ranging from 44 kb to 9.88 Mb. The hemizygosity of the ELN gene was detected in 7 patients, while a normal ELN gene was present in 3 other patients with small deletions. We observed that the phenotypic features of WBS varied in fetuses, children and adults, influenced by the genes, deletion size and breakpoint. Our findings provide more information on the genotype-phenotype correlations of WBS. However, further research is needed to explore the size and breakpoint effect and functions of the genes on chromosome 7q11.23.

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7q11.23 Microduplication: a recognizable phenotype

Cited by 30 publications

References 21 publications

Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation

Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation

Síndrome de duplicación 7q11.23. Primer caso descrito en América Latina

Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis

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