The 22q11 microdeletion syndrome in children

Lewandowicz-Uszyńska, Aleksandra; Zwonarz, Katarzyna; Chmielarska, Joanna

doi:10.5114/ceji.2013.35220

Cited by 5 publications

(3 citation statements)

References 19 publications

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“…22q11.2 deletion syndrome is postnatally diagnosed through SNP array, multiplex ligation-dependent probe amplification (MLPA), chromosomal microarray (CMA) or less frequently used FISH. When a new born has many of the 22q11.2DS features, the SNP array is recommended to confirm the diagnosis, as about 5–10% of individuals with a clinical finding of the 22q11.2 deletion syndrome have normal routine cytogenetic studies and normal FISH results [ 4 , 97 , 98 ]. These rare patients are diagnosed with DiGeorge syndrome [ 4 ].…”

Section: Individual Levelmentioning

confidence: 99%

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels

Karbarz

2020

Genes

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Chromosomal 22q11.2 deletion syndrome (22q11.2DS) (ORPHA: 567) caused by microdeletion in chromosome 22 is the most common chromosomal microdeletion disorder in humans. Despite the same change on the genome level, like in the case of monozygotic twins, phenotypes are expressed differently in 22q11.2 deletion individuals. The rest of the genome, as well as epigenome and environmental factors, are not without influence on the variability of phenotypes. The penetrance seems to be more genotype specific than deleted locus specific. The transcript levels of deleted genes are not usually reduced by 50% as assumed due to haploinsufficiency. 22q11.2DS is often an undiagnosed condition, as each patient may have a different set out of 180 possible clinical manifestations. Diverse dysmorphic traits are present in patients from different ethnicities, which makes diagnosis even more difficult. 22q11.2 deletion syndrome serves as an example of a genetic syndrome that is not easy to manage at all stages: diagnosis, consulting and dealing with.

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Section: Individual Levelmentioning

confidence: 99%

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels

Karbarz

2020

Genes

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“…Polish studies, published on this issue, mostly focus on genetic disturbances and structural defects -mainly congenital disorders of the circulatory system. only a few studies refer to immune disorders and psychiatric diseases which occur in patients with 22q11Ds [3,4,6,7,[16][17][18]. studies which are published in in- tion and, according to the most recent data, the second -after Down syndrome -cause of intellectual disability), social awareness of this disorder and concomitant disturbances, as well as the knowledge of medical professionals, still seem to be insufficient.…”

Section: Discussionmentioning

confidence: 99%

Psycho-social problems in patients with 22q11.2 deletion syndrome – according to subjective evaluation by parents

Cywińska-Bernas¹,

Paśnik²,

Szałowska-Woźniak³

et al. 2018

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A -study Design, B -Data Collection, C -statistical Analysis, D -Data interpretation, E -Manuscript Preparation, F -literature search, G -funds Collection Background. Deletion syndrome 22q11.2 is a frequently occurring genetic disorder effecting not only malfunctions of the structure and function of many organs and systems, but also a number of psycho-social problems in patients of all ages. Objectives. the aim of the study was the evaluation of psycho-social problems experienced by people with confirmed 22q11Ds observed by their parents/caregivers. Material and methods. A group of 32 parents'/caregivers' children with 22q11Ds diagnosis (confirmed by fish or MlPA analysis) were examined. the age of patients at the moment of examination was from 3 months to 23 years. to identify the most frequent problems a questionnaire survey was used with the use of the authors' questionnaire. Results. on the basis of the acquired data analysis it was stated that the most frequent problems in children reported by the questioned parents/caregivers were problems with speech development, problems with focusing attention, problem in relations with peers, and school difficulties. the questioned parents also emphasized excessive anxiety of the children and frequent behavior disorders. Moreover, many parents are concerned with their children's adult lives, and emphasize the necessity of professional support (including psychological) in different stages of the sick child's upbringing. Conclusions. Patients with 22q11Ds experience many psychological and social problems and require, with their families, psychological support in different stages of life. the child's condition, in many parents' opinion, is a factor significantly influencing functioning in life and determining the occurrence of problems in the future. the task of primary care physicians is not only to identify patients suspected of 22q11Ds and to lead them to genetic diagnostics, but also to provide support to the patients and their families in different stages of life in cooperation with many other specialists. SummaryISSN 1734-3402, eISSN 2449-8580 this is an open Access article distributed under the terms of the Creative Commons Attribution-nonCommercial-shareAlike 4.0 international (CC By-nC-sA 4.0). license (http://creativecommons.org/licenses/by-nc-sa/4.0/). Cywińska-Bernas A, Paśnik J, szałowska-woźniak D, Pilarz e, Jarosz P, Piotrowicz M, Moll-Maryńczak A, Machnia M, zeman k. Psycho--social problems in patients with 22q11.2 deletion syndrome -according to subjective evaluation by parents. Fam Med Prim Care Rev 2018; 20(2): 117-123, doi: https://doi.

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“…22q11.2 has become an umbrella term to describe multiple other syndromes that were previously described separately but shared similar characteristics, such as DiGeorge Syndrome, Velocardiofacial Syndrome, and Conotruncal Anomaly Face Syndrome [ 2 , 3 ]. With the advancement and increased accessibility to genetic testing and recognition of specific chromosomal abnormalities, we have been able to better characterize the condition as one collective syndrome with varying presentations: 22q11.2 deletion syndrome [ 3 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

The Unique Experience of a New Multidisciplinary Program for 22q Deletion and Duplication Syndromes in a Community Hospital in Florida: A Reaffirmation That Multidisciplinary Care Is Essential for Best Outcomes in These Patients

Meneses

Durant

Ale

2022

Genes

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In 2018, the first 22q11.2 multidisciplinary program in the state of Florida was created at Joe DiMaggio Children’s Hospital following the new paradigm for best care of 22q11.2 deletion patients. Since inauguration, the clinic flourished despite challenges. Our 22q clinic has 149 patients ranging from ages 0–21. From that total, 138 are 22q11.2DS: 74 females and 64 males (44% Hispanics, 35% Caucasians, 11% African American, 3% Asian and 7% multiracial). Eleven patients are in the 22q11.2 duplication group; 7 females and 4 males (50% Hispanics, 30% Caucasians 10% Asian and 10% multiracial). Our multidisciplinary team has grown to include twelve different specialties to better serve our growing patient population and has adapted to the pandemic by offering virtual clinics. Although there are many 22q multidisciplinary clinics worldwide, our clinic has special characteristics. We have an ethnically diverse group of patients and a large team of mostly bilingual providers who are passionate about and have expertise on 22q Deletion/Duplication Syndromes. Our 22q clinic is based at a community hospital and counts on the partnership of local 22q patient support groups. The program is also unique in that it is now expanding to care for adult 22q patients. Our clinic is another live example of how multidisciplinary care is the best way to achieve the most optimal outcomes in 22q patients, and that if there is a passionate and dedicated team of providers willing to collaborate for these patients, a 22q multidisciplinary program can thrive, succeed and grow at a community hospital.

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The 22q11 microdeletion syndrome in children

Abstract: Abstract

Cited by 5 publications

References 19 publications

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels

Psycho-social problems in patients with 22q11.2 deletion syndrome – according to subjective evaluation by parents

The Unique Experience of a New Multidisciplinary Program for 22q Deletion and Duplication Syndromes in a Community Hospital in Florida: A Reaffirmation That Multidisciplinary Care Is Essential for Best Outcomes in These Patients

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