Clinical Correlation of Chromosome 22q11.2 Fluorescent in Situ Hybridization Analysis and Velocardiofacial Syndrome

Oh, Albert K.; Wong, Granger B.

doi:10.1597/05-192

Cited by 26 publications

(29 citation statements)

References 30 publications

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“…damental in achieving diagnosis, treatment, and management. Follow-up care with a multidisciplinary team, according to each patient's needs, as well as adequate genetic counseling for the families are necessary [Oskarsdóttir et al, 2004;Oh et al, 2007].…”

Section: Discussionmentioning

confidence: 99%

“…Targeted approaches, such as FISH, real-time PCR, analysis of polymorphic DNA markers, and quantitative fluorescent PCR, though well established and fast, are only effective in detecting common deletions [Fernán-dez et al, 2005;Oh et al, 2007;Molck et al, 2013;Vieira et al, 2013;Poirsier et al, 2016]. Thus, negative results may lead to false negative diagnosis, since atypical 22q11.2 deletions may occur [Beaujard et al, 2009;Molck et al, 2013].…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, depending on the genetic test used, a negative result may not completely disregard the diagnosis, requiring further investigation in cases of persistent clinical suspicion. For many years, FISH was considered as a "gold standard" for detecting this microdeletion [Fernández et al, 2005;Oh et al, 2007;Sgardioli et al, 2015]. Currently, new targeted techniques such as MLPA, analysis of polymorphic DNA markers, real-time PCR, and quantitative fluorescence PCR have been used in screening 22q11.2DS [Swillen et al, 2000;Jalali et al, 2008;Vieira et al, 2013].…”

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confidence: 99%

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Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases

et al. 2017

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In the last few decades, different methods for the detection of genomic imbalances, such as the microdeletion syndromes, were developed. The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome and presents wide clinical heterogeneity. The aim of this study was to describe 4 unusual cases of genomic imbalances found in individuals with suspected microdeletion syndromes. Different methods were necessary to complete the diagnosis and to obtain information for genetic counseling. The study was retrospective and descriptive. From August 2014 to December 2015, 39 individuals were assessed using FISH and/or MLPA; in 15 cases, chromosomal microarray (CMA) analysis was carried out. Of 39 registered individuals, we found deletions in the 22q11.2 region in 10 individuals (8 individuals with 22q11.2DS and 2 individuals presenting with atypical deletions in the 22q11.2 region: 1 distal deletion and 1 central deletion). In one case with a typical 22q11.2 deletion, a familial balanced translocation was detected. In another case without a 22q11.2 deletion, a 6p duplication concomitant with a 9p deletion was detected by CMA. Clinical data are reported and diagnostic investigations are discussed. Essential aspects for the understanding of different diagnostic techniques of genomic imbalances are considered, and the 4 cases described underline the complexity and the difficulties involved in the diagnostic process. The approach is informative for clinical practice and may be applied in other contexts of genomic imbalance investigation in microdeletion syndromes.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases

et al. 2017

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“…Identification of these variant cases is of particular interest, because it may provide insight into the genes or genomic regions, which are crucial for specific phenotypic manifestations, and may help to elucidate the mechanisms of deletion and duplication [18]. Oh et al analyzed phenotypes of 16 patients with 22q11.2 deletions and revealed the correlation of characteristic face and small stature with 22q11.2 deletions [19]. Rauch et al stated that atypical clinical findings related to atypical 22q11.2 deletions, and that the distally nested interval of TDR containing the gene of CRKL contributed to major mental impairment [20].…”

Section: Discussionmentioning

confidence: 99%

Characteristic Face: A Key Indicator for Direct Diagnosis of 22q11.2 Deletions in Chinese Velocardiofacial Syndrome Patients

Yang

et al. 2013

PLoS ONE

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Velocardiofacial syndrome (VCFS) is a disease in human with an expansive phenotypic spectrum and diverse genetic mechanisms mainly associated with copy number variations (CNVs) on 22q11.2 or other chromosomes. However, the correlations between CNVs and phenotypes remain ambiguous. This study aims to analyze the types and sizes of CNVs in VCFS patients, to define whether correlations exist between CNVs and clinical manifestations in Chinese VCFS patients. In total, 55 clinically suspected Chinese VCFS patients and 100 normal controls were detected by multiplex ligation-dependent probe amplification (MLPA). The data from MLPA and all the detailed clinical features of the objects were documented and analyzed. A total of 44 patients (80.0%) were diagnosed with CNVs on 22q11.2. Among them, 43 (78.2%) presented with 22q11.2 heterozygous deletions, of whom 40 (93.0%) had typical 3-Mb deletion, and 3 (7.0%) exhibited proximal 1.5-Mb deletion; no patient was found with atypical deletion on 22q11.2. One patient (1.8%) presented with a 3-Mb duplication mapping to the typical 3-Mb region on 22q11.2, while none of the chromosomal abnormalities in the MLPA kit were found in the other 11 patients and 100 normal controls. All the 43 patients with 22q11.2 deletions displayed characteristic face and palatal anomalies; 37 of them (86.0%) had cognitive or behavioral disorders, and 23 (53.5%) suffered from immune deficiencies; 10 patients (23.3%) manifested congenital heart diseases. Interestingly, all patients with the characteristic face had 22q11.2 heterozygous deletions, but no difference in phenotypic spectrum was observed between 3-Mb and 1.5-Mb deletions. Our data suggest that the characteristic face can be used as a key indicator for direct diagnosis of 22q11.2 deletions in Chinese VCFS patients.

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“…Se describe que alrededor del 5% de las personas con síntomas clínicos de la deleción, presentan un test FISH negativo (7,8) .…”

Section: Desarrollounclassified

Descripción de características clínicas del síndrome velocardiofacial

Alvarez¹,

Palomares²,

Villena³

2012

Revista Chilena De Fonoaudiología

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RESUMENUno de los síndromes más frecuentes asociados a fisura palatina es el Síndrome Velocardiofacial. Sus características involucran aspectos faciales, cardiológicos, psicológicos, lingüísticos y de aprendizaje, que deben ser abordados por equipos multiprofesionales. Internacionalmente el estudio de este síndrome se ha ido masificando en forma progresiva. En nuestro país son escasos los grupos que manejan e intervienen en esta población. En este contexto es que se hace necesaria una revisión bibliográfica actualizada, que resuma los hallazgos clínicos y algunos aspectos de manejo multiprofesional, desde una perspectiva fonoaudiológica.Palabras clave: Síndrome Velocardiofacial, Fisura Palatina, Insuficiencia Velofaríngea, Faringoplastía. ABSTRACTVelo-Cardio-Facial syndrome (VCFS) is one of the most frequently associated syndromes to cleft palate. It comprises facial, cardiological, psychological, and linguistic disorders as well as learning difficulties which all must be addressed by a multi-professional team. The study of this syndrome has been systematically carried out around the world. In Chile, however, there are only few health-related professionals who work with this patient population. The present article aims at providing an up-to-date review, from a speech pathology point of view, on the clinical findings and on some aspects involved in the clinical management of VCFS.

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Clinical Correlation of Chromosome 22q11.2 Fluorescent in Situ Hybridization Analysis and Velocardiofacial Syndrome

Cited by 26 publications

References 30 publications

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases

Characteristic Face: A Key Indicator for Direct Diagnosis of 22q11.2 Deletions in Chinese Velocardiofacial Syndrome Patients

Descripción de características clínicas del síndrome velocardiofacial

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