7q21.11 Microdeletion in a Neonate with Goldenhar Syndrome: Case Report and a Literature Review

Puvabanditsin, Surasak; Francois, Lissa; Garrow, Eugene; Bruno, Chantal; Mehta, Rajeev

doi:10.1597/14-308

Cited by 5 publications

(3 citation statements)

References 11 publications

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“…In the literature review, 17 articles reporting genomic imbalances in individuals with CFM were found. Among them, four studies were case series (Beleza‐Meireles et al, 2015; Bragagnolo et al, 2018; Callier et al, 2008; Rooryck et al, 2010) and 13 were case reports (Brun et al, 2012; Colovati et al, 2015; Dos Santos et al, 2014; Gimelli, Cuoco, Ronchetto, Gimelli, & Tassano, 2013; Guida et al, 2015; Lafay‐Cousin et al, 2009; Puvabanditsin et al, 2016; Quintero‐Rivera & Martinez‐Agosto, 2013; Rooryck et al, 2010; Tan et al, 2011; Torti, Braddock, Bernreuter, & Batanian, 2013; Xu, Fan, & Siu, 2008; Zielinski et al, 2014). There were two individuals described twice in the literature.…”

Section: Resultsmentioning

confidence: 99%

“…In the literature review, 17 articles reporting genomic imbalances in individuals with CFM were found. Among them, four studies were case series (Beleza-Meireles et al, 2015;Bragagnolo et al, 2018;Callier et al, 2008;Rooryck et al, 2010) and 13 were case reports (Brun et al, 2012;Colovati et al, 2015;Dos Santos et al, 2014;Gimelli, Cuoco, Ronchetto, Gimelli, & Tassano, 2013;Guida et al, 2015;Lafay-Cousin et al, 2009;Puvabanditsin et al, & Martinez-Agosto, 2013;Tan et al, 2011;Torti et al, 2013;Xu et al, 2008 Although the VOUS do not enable concluding the diagnosis, these genomic imbalances must not be scrapped; the reanalyzes of these VOUS might be important, because their classification may change to either a benign or pathogenic category as the clinical databases are updated (Nowakowska, 2017;Palmer et al, 2014).…”

Section: Literature Reviewmentioning

confidence: 99%

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Genomic imbalances in craniofacial microsomia

Spineli-Silva

Sgardioli

Santos

et al. 2020

American J of Med Genetics Pt C

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The aim of this study was to perform 22q11.2 deletion screening and chromosomal microarray analysis (CMA) in individuals clinically diagnosed with craniofacial microsomia (CFM) and review previously published cases of CFM with genomic imbalances. It included 54 individuals who were evaluated by a clinical geneticist. Copy number variants (CNVs) in the 22q11.2 region were investigated by multiplex ligation-dependent probe amplification (MLPA) for all individuals. The CMA was performed only for individuals with additional major features. MLPA revealed pathogenic CNVs at the 22q11 region in 3/54 (5.6%) individuals. CMA revealed pathogenic CNVs in 4/17 (23.5%) individuals, including the three CNVs at the 22q11 region also detected by MLPA, and CNVs classified as variants of unknown significance (VOUS) in 4/17 (23.5%) individuals. Pathogenic alterations were found at the 2p12, 5p15, 13q13, and 22q11 regions. VOUS were found at 3q29, 5q22.2, 5q22.1, and 9p22 regions. All individuals with pathogenic alterations presented additional major features, including congenital heart disease (CHD). The literature review revealed pathogenic CNVs in 17/193 (8.8%) individuals and most of them also presented additional major features, such as CHD, renal anomalies, or developmental delay. In conclusion, CNVs should be investigated in patients with CFM and additional major features.

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Section: Resultsmentioning

confidence: 99%

Section: Literature Reviewmentioning

confidence: 99%

Genomic imbalances in craniofacial microsomia

Spineli-Silva

Sgardioli

Santos

et al. 2020

American J of Med Genetics Pt C

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“…asymmetry and microtia, there is no consensus regarding clinical criteria for diagnosis 7 or genetic cause. 8 Several genomic and chromosomal alterations have been reported in individuals with clinical diagnosis for OAVS, 6,[9][10][11] and there is no gold standard modality for molecular diagnosis in OAVS. Heterogeneity is a hallmark of OAVS.…”

Section: Introductionmentioning

confidence: 99%

Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review

et al. 2020

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Oculoauriculovertebral spectrum (OAVS) is a rare class of heterogenous congenital craniofacial malformation conditions of unknown etiology. Although classic OAVS has been described as hemifacial microsomia with facial asymmetry and microtia, there is no consensus regarding clinical criteria for diagnosis or genetic cause. This systematic review aims to assess the applicability of high-resolution (HR) karyotype, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification (MLPA), and microarray-based comparative genomic hybridization (array-CGH) for differential diagnosis of OAVS. A search was performed in PubMed and Web of Science using all entry terms to the following descriptors: Goldenhar's syndrome, cytogenetic analysis, hybridization in situ, fluorescent, comparative genomic hybridization, multiplex polymerase chain reaction, whole genome sequencing, and karyotype analysis methods. After screening, 25 articles met eligibility. Of the included studies, 59 individuals had a genetic alteration identified. Array-CGH, MLPA, and HR karyotype appear to be viable approaches for molecular diagnosis in OAVS. Heterogeneity is a hallmark of OAVS. Establishing an enhanced framework for diagnosis would inform clinical decision making, and better resource utilization could improve health care facility efficiency and economy.

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Cochleaimplantatversorgung eines Mädchens mit 7q-Mikrodeletionssyndrom

Roemer

Lenarz

Lesinski‐Schiedat

2017

HNO

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One of the rare genetic diseases with sensory hearing loss is the microdeletion 7q syndrome. First described in the 1990s, only 7 cases of patients with this disease are described in the literature. Although this mutation is not well known, otological treatment is necessary if the DFNA5 gene is affected. A mutation in this gene leads to progressive hearing loss. Affected children therefore need regular evaluation of their hearing to ensure adequate treatment with hearing aids at early stages. We now present a case of an affected child with sensory hearing loss, mental retardation and anogenital malformations. In the following we describe the course of disease and possible treatment options. We especially describe the possibility of cochlear implantation. We can show with this case report that, even though massive mental retardation is shown, cochlear implantation is useful in this patient. Associated disabilities as cardiac and pulmonary problems may occur and should be treated before cochlear implantation. This is the first report of cochlear implantation in a child affected with microdeletion 7q syndrome.

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7q21.11 Microdeletion in a Neonate with Goldenhar Syndrome: Case Report and a Literature Review

Cited by 5 publications

References 11 publications

Genomic imbalances in craniofacial microsomia

Genomic imbalances in craniofacial microsomia

Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review

Cochleaimplantatversorgung eines Mädchens mit 7q-Mikrodeletionssyndrom

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