Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies
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DOI: 10.1007/s00246-021-02645-7
Abstract: Aortic root dilation (ARD) has been reported in patients with 22q11.2 deletion syndrome (22q11.2DS) with and without congenital heart defects (CHDs). However, the long-term implications of isolated ARD in 22q11.2DS remain undefined. In this study,… read more here.
Keywords: deletion syndrome; root; patients 22q11; root dilation ... See more keywords
Access to Multidisciplinary Care for Patients With 22q11.2 Deletion Syndrome: Identifying Breakdowns in the Screening Process.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Craniofacial Surgery"
DOI: 10.1097/scs.0000000000006142
Abstract: The 22q11.2 deletion syndrome affects approximately 1 in 4000 live births and involves cardiac defects, immunodeficiency, and endocrine disruption. The complexity of diagnosis and multifaceted care often leads to fragmented management in the short and… read more here.
Keywords: deletion; care; deletion syndrome; patients 22q11 ... See more keywords
Cardiac Evaluation of Patients With 22Q11.2 Duplications
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DOI: 10.1542/peds.147.3_meetingabstract.405
Abstract: Background: The 22q11.2 duplication syndrome (22q11.2DupS) has been diagnosed more frequently with the advent of microarray technology. Given that it disrupts the same region as the more familiar 22q11.2 deletion syndrome (22q11.2DS), patients with the… read more here.
Keywords: 22q11 2dups; 22q11 duplications; cardiac evaluation; patients 22q11 ... See more keywords
Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome
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DOI: 10.17712/nsj.2020.4.20200045
Abstract: Objectives: To describe the epilepsy, neuropsychiatric manifestations, and neuroimaging findings in a group of patients with 22q11.2 DS, and to correlate the size of the deleted genetic material with the severity of the phenotype. Methods:… read more here.
Keywords: epilepsy neuropsychiatric; disorder; correlation; patients 22q11 ... See more keywords
Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome
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DOI: 10.3389/fendo.2022.771100
Abstract: Background Endocrine disorders are common in patients with 22q11.2 deletion syndrome (22q11.2DS). This study aimed to elucidate the clinical manifestations of endocrine disorders, including parathyroid, thyroid and growth disorders, in Taiwanese patients with 22q11.2DS. Methods… read more here.
Keywords: patients 22q11; growth; 22q11 deletion; hypoparathyroidism ... See more keywords
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome
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DOI: 10.3390/genes14030680
Abstract: 22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in the genome can affect clinical… read more here.
Keywords: patients 22q11; deletion; 22q11 deletion; coexisting conditions ... See more keywords