scholarly journals Genotypic and phenotypic variability of 22q11.2 microdeletions – an institutional experience

2021 ◽  
Vol 8 (4) ◽  
pp. 257-274
Author(s):  
Gabrielle C. Manno ◽  
◽  
Gabrielle S. Segal ◽  
Alexander Yu ◽  
Fangling Xu ◽  
...  
Keyword(s):  
New Technologies ◽  
Phenotypic Variability ◽  
Velopharyngeal Insufficiency ◽  
Chromosomal Microarray ◽  
Hyperactivity Disorder ◽  
Chromosome 22Q11.2 ◽  
Clinical Presentations ◽  
Dual Diagnoses ◽  
Institutional Experience ◽  
22Q11.2 Microdeletion

<abstract> <p>Patients with chromosome 22q11.2 deletion syndromes classically present with variable cardiac defects, parathyroid and thyroid gland hypoplasia, immunodeficiency and velopharyngeal insufficiency, developmental delay, intellectual disability, cognitive impairment, and psychiatric disorders. New technologies including chromosome microarray have identified smaller deletions in the 22q11.2 region. An increasing number of studies have reported patients presenting with various features harboring smaller 22q11.2 deletions, suggesting a need to better elucidate 22q11.2 deletions and their phenotypic contributions so that clinicians may better guide prognosis for families. We identified 16 pediatric patients at our institution harboring various 22q11.2 deletions detected by chromosomal microarray and report their clinical presentations. Findings include various neurodevelopmental delays with the most common one being attention deficit hyperactivity disorder (ADHD), one reported case of infant lethality, four cases of preterm birth, one case with dual diagnoses of 22q11.2 microdeletion and Down syndrome. We examined potential genotypic contributions of the deleted regions.</p> </abstract>

scholarly journals ADHD: science, stigma and service implications

2018 ◽  
Vol 35 (3) ◽  
pp. 169-172
Author(s):  
B. Gavin ◽  
F. McNicholas
Keyword(s):  
Treatment Practice ◽  
Hyperactivity Disorder ◽  
Adult Services ◽  
Effective Interventions ◽  
Clinical Presentations ◽  
Assessment And Treatment ◽  
Treatment Practice Guidelines ◽  
Psychological Medicine ◽  
Evidenced Based ◽  
Personal Reflections

We are delighted to dedicate an edition of the Irish Journal of Psychological Medicine to the topic of attention-deficit hyperactivity disorder (ADHD). ADHD accounts for the majority of clinical presentations to Child and Adolescent Mental Health Services, both in terms of new assessments and ongoing attendances. Papers presented in this edition reflect on the evolving construct of ADHD, drawing from science, clinical practice and public opinion. Current and evidenced-based assessment and treatment practice guidelines are reviewed. International longitudinal studies allow us to understand the personal and societal cost, which can persist for many years post-diagnosis. Despite continuation to adulthood in many young people, follow on adult services are lacking. It is fitting that submissions, by way of personal reflections and opinion pieces, are also included from adult colleagues as they reflect on their experiences in this area. Given the recent development of a national clinical programme in ADHD in Ireland, coupled with a growing evidence for effective interventions, it is hoped that this special edition will highlight the need for appropriate and accessible ADHD treatments across the lifespan.

Chromosome 22q11 deletion in a patient with pulmonary atresia, intact ventricular septum, and confluent branch pulmonary arteries

2017 ◽  
Vol 28 (3) ◽  
pp. 467-470 ◽  
Author(s):  
Varun Aggarwal ◽  
Michaki Imamura ◽  
Carlos Acuna ◽  
Antonio G. Cabrera
Keyword(s):  
Pulmonary Stenosis ◽  
Pulmonary Arteries ◽  
Pulmonary Atresia ◽  
22Q11.2 Deletion Syndrome ◽  
Ventricular Septum ◽  
Deletion Syndrome ◽  
Intact Ventricular Septum ◽  
Chromosome 22Q11 ◽  
Chromosome 22Q11.2 ◽  
22Q11.2 Microdeletion

AbstractIn this study, we report a patient with pulmonary atresia with intact ventricular septum (PA/IVS), confluent pulmonary arteries supplied by an arterial duct, and chromosome 22q11.2 microdeletion. The 22q11.2 deletion syndrome has been associated with anomalies of the outflow tracts, such as tetralogy of Fallot with either pulmonary stenosis or atresia, but we are aware of a solitary case described with pulmonary atresia when the ventricular septum is intact. The presence of genetic malformations can have long-term co-morbidities. By describing our patient, we aim to create awareness of this rare association.

Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience

2019 ◽  
Vol 179 (11) ◽  
pp. 2178-2189 ◽  
Author(s):  
Alexander Yu ◽  
Donald Turbiville ◽  
Fangling Xu ◽  
Joseph W. Ray ◽  
Allison D. Britt ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Institutional Experience

scholarly journals Attention-deficit hyperactivity disorder in adults

2010 ◽  
Vol 16 (2) ◽  
pp. 96-104 ◽  
Author(s):  
Raguraman Janakiraman ◽  
Tony Benning
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Rating Scales ◽  
Clinical Interview ◽  
Diagnostic Evaluation ◽  
Review Of The Literature ◽  
Complete Understanding ◽  
Distinct Entity ◽  
Hyperactivity Disorder ◽  
Clinical Presentations

SummaryAttention-deficit hyperactivity disorder (ADHD) is an established diagnosis in children but there is a lack of agreement about its validity as a distinct entity in adults. Literature suggests that between one-third and two-thirds of children diagnosed with ADHD continue to manifest symptoms into adulthood. An adult diagnosis should be done on the basis of a thorough assessment, structured and semi-structured clinical interview, and with a complete understanding of the symptoms that manifest in adults. This may be supplemented by the use of rating scales. We present a review of the literature covering aetiology, clinical presentations, diagnostic evaluation and management of ADHD in adults.

scholarly journals Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia

2016 ◽  
Vol 27 (14) ◽  
pp. 2172-2185 ◽  
Author(s):  
John J. Kelly ◽  
Jessica L. Esseltine ◽  
Qing Shao ◽  
Ethylin Wang Jabs ◽  
Jacinda Sampson ◽  
...  
Keyword(s):  
Gap Junction ◽  
Dermal Fibroblast ◽  
Phenotypic Variability ◽  
Human Dermal Fibroblast ◽  
Cell Polarization ◽  
Gap Junctional Intercellular Communication ◽  
Multiple Organs ◽  
Clinical Presentations ◽  
Gap Junctional ◽  
Oculodentodigital Dysplasia

Oculodentodigital dysplasia (ODDD) is a rare genetic disease that affects the development of multiple organs in the human body. More than 70 mutations in the gap junction connexin43 (Cx43) gene, GJA1, are associated with ODDD, most of which are inherited in an autosomal dominant manner. Many patients exhibit similar clinical presentations. However, there is high intrafamilial and interfamilial phenotypic variability. To better understand this variability, we established primary human dermal fibroblast cultures from several ODDD patients and unaffected controls. In the present study, we characterized three fibroblast lines expressing heterozygous p.L7V, p.G138R, and p.G143S Cx43 variants. All ODDD fibroblasts exhibited slower growth, reduced migration, and defective cell polarization, traits common to all ODDD fibroblasts studied so far. However, we found striking differences in overall expression levels, with p.L7V down-regulated at the mRNA and protein level. Although all of the Cx43 variants could traffic to the cell surface, there were stark differences in gap junction plaque formation, gap junctional intercellular communication, Cx43 phosphorylation, and hemichannel activity among Cx43 variants, as well as subtle differences in myofibroblast differentiation. Together these findings enabled us to discover mutation-specific pathologies that may help to predict future clinical outcomes.

Variable phenotype and associations in chromosome 22q11.2 microdeletion

2006 ◽  
Vol 140A (6) ◽  
pp. 659-660 ◽  
Author(s):  
Murat Derbent ◽  
Yunus Emre Bikmaz ◽  
Zerrin Yilmaz ◽  
Kursad Tokel
Keyword(s):  
Chromosome 22Q11.2 ◽  
22Q11.2 Microdeletion ◽  
Variable Phenotype ◽  
Chromosome 22Q11.2 Microdeletion

scholarly journals The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology

2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Ana Julia Cunha Leite ◽  
Irene Plaza Pinto ◽  
Damiana Mirian da Cruz e Cunha ◽  
Cristiano Luiz Ribeiro ◽  
Claudio Carlos da Silva ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Normal Karyotype ◽  
Clinical Indication ◽  
Deletion Syndrome ◽  
Chromosomal Microarray ◽  
Global Developmental Delay ◽  
Chromosomal Microarray Analysis ◽  
Genomic Deletions ◽  
Number Variation ◽  
Genomic Regions

The chromosome 22q11.2 region has long been implicated in genomic diseases. Some genomic regions exhibit numerous low copy repeats with high identity in which they provide increased genomic instability and mediate deletions and duplications in many disorders. DiGeorge Syndrome is the most common deletion syndrome and reciprocal duplications could be occurring in half of the frequency of microdeletions. We described five patients with phenotypic variability that carries deletions or reciprocal duplications at 22q11.2 detected by Chromosomal Microarray Analysis. The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had clinical indication to global developmental delay and a normal karyotype. We observed in our study three microdeletions and two microduplications in 22q11.2 region with variable intervals containing known genes and unstudied transcripts as well as the LCRs that are often flanking and within this genomic rearrangement. The identification of these variants is of particular interest because it may provide insight into genes or genomic regions that are crucial for specific phenotypic manifestations and are useful to assist in the quest for understanding the mechanisms subjacent to genomic deletions and duplications.

A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3

2018 ◽  
Vol 156 (2) ◽  
pp. 80-86
Author(s):  
Ilária C. Sgardioli ◽  
Elaine Lustosa-Mendes ◽  
Ana P. dos Santos ◽  
Társis P. Vieira ◽  
Vera L. Gil-da-Silva-Lopes
Keyword(s):  
Learning Difficulties ◽  
Velopharyngeal Insufficiency ◽  
Chromosomal Microarray ◽  
Imprinted Genes ◽  
Chromosomal Microarray Analysis ◽  
Phenotype Correlation ◽  
Behavioral Impairment ◽  
Motor Delay ◽  
15Q11.2 Deletion ◽  
Omim Database

A female individual with concomitant deletions in 15q11.2 and 19p13.3 is reported. She presents facial dysmorphisms, motor delay, learning difficulties, and mild behavioral impairment. After chromosomal microarray analysis, the final karyotype was established as 46,XX.arr[GRCh37] 15q11.2 (22770421_23282798)×1,19p13.3(3793904_4816330)×1. The deletion in 15q11.2 is 507 kb in size involving 7 non-imprinted genes, 4 of which are registered in the OMIM database and are implicated in neuropsychiatric or neurodevelopmental disorders. The deletion in 19p13.3 is 1,022 kb in size and encompasses 47 genes, most of which do not have a well-known function. The genotype-phenotype correlation is discussed, and most of the features could be related to the 19p13.3 deletion, except for velopharyngeal insufficiency. Other genes encompassed in the deleted region, as well as unrecognized epistatic factors could also be involved. Nevertheless, the two-hit model related to the 15q11.2 deletion would be an important hypothesis to be considered.

scholarly journals Recent advances in prenatal genetic screening and testing

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 2591 ◽  
Author(s):  
Ignatia B. Van den Veyver
Keyword(s):  
New Technologies ◽  
Single Gene ◽  
Chorionic Villus ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chorionic Villus Sampling ◽  
Non Invasive ◽  
Single Gene Disorders ◽  
Whole Exome ◽  
Cell Free Fetal Dna

The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy.

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