22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

Burnside, Rachel D.

doi:10.1159/000438708

Cited by 1,437 publications

(162 citation statements)

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“…This is one of the most common recurrent microdeletions in humans, with an estimated incidence of ∼1: 4,000 births. Although it is described as a well-known genetic syndrome, patients with 22q11 deletions usually have features with widely variable expressivity [22]. None of the patients with 22q11 deletion identified in studies of children with short stature of unknown cause have the typical signs associated with this syndrome [22, 23].…”

Section: Discussionmentioning

confidence: 99%

“…Although it is described as a well-known genetic syndrome, patients with 22q11 deletions usually have features with widely variable expressivity [22]. None of the patients with 22q11 deletion identified in studies of children with short stature of unknown cause have the typical signs associated with this syndrome [22, 23]. Also, several of these patients had some unspecific findings associated with 22q11 deletions (dysmorphic facial features, postnatal growth restriction, microcephaly, developmental and learning disabilities, psychiatric and/or behavioral problems) that could be confounded with other syndromes with a similar phenotype.…”

Section: Discussionmentioning

confidence: 99%

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Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

et al. 2017

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Background/Aims: Genetic imbalances are responsible for many cases of short stature of unknown etiology. This study aims to identify recurrent pathogenic copy number variants (CNVs) in patients with syndromic short stature of unknown cause. Methods: We selected 229 children with short stature and dysmorphic features, developmental delay, and/or intellectual disability, but without a recognized syndrome. All patients were evaluated by chromosomal microarray (array-based comparative genomic hybridization/single nucleotide polymorphism array). Additionally, we searched databases and previous studies to recover recurrent pathogenic CNVs associated with short stature. Results: We identified 32 pathogenic/probably pathogenic CNVs in 229 patients. By reviewing the literature, we selected 4 previous studies which evaluated CNVs in cohorts of patients with short stature. Taken together, there were 671 patients with short stature of unknown cause evaluated by chromosomal microarray. Pathogenic/probably pathogenic CNVs were identified in 87 patients (13%). Seven recurrent CNVs, 22q11.21, 15q26, 1p36.33, Xp22.33, 17p13.3, 1q21.1, 2q24.2, were observed. They are responsible for about 40% of all pathogenic/probably pathogenic genomic imbalances found in short stature patients of unknown cause. Conclusion: CNVs seem to play a significant role in patients with short stature. Chromosomal microarray should be used as a diagnostic tool for evaluation of growth disorders, especially for syndromic short stature of unknown cause.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

et al. 2017

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“…However, in some affected individuals, pulmonary dysgenesis and other structural airway abnormalities may be present in addition to abnormal development of the pharyngeal arch. On the other hand, in cardiac defects, pulmonary artery anomalies such as pulmonary atresia and absent pulmonary valve syndrome can affect lung function [127].…”

Section: Pulmonary Dysgenesismentioning

confidence: 99%

Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders

Yazdani

Abolhassani

et al. 2017

J Investig Allergol Clin Immunol

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Primary immunodeficiency disorders (PIDs) are caused by 1 or more defects of the immune system. Patients are more likely to experience recurrent and/or severe infections and tend to develop a wide range of complications. Respiratory diseases are the main and initial manifestation in most cases and the most common complication. Pulmonary complications cause significant morbidity and mortality in patients with PIDs. Early diagnosis and appropriate treatment can prevent or at least slow the development of respiratory complications. Since the spectrum of pulmonary complications in PIDs is broad, we divided pulmonary complications into upper respiratory complications (eg, sinusitis, otitis media, and laryngeal angioedema) and lower respiratory complications (eg, pneumonia, bronchitis, bronchiectasis, interstitial lung diseases, organizing pneumonia, pulmonary adenopathies and malignancies, hyperreactive airway diseases, pulmonary dysgenesis, and adverse reactions to treatment). This review covers the main respiratory manifestations in patients with PIDs. Key words: Primary immunodeficiency disorders. Pulmonary complications. Upper respiratory tract. Lower respiratory tract. ResumenLas inmunodeficiencias primarias (PIDs) son enfermedades causadas por uno o más defectos del sistema inmunológico. Estos pacientes presentan con frecuencia infecciones recidivantes y/o severas así como otro tipo de complicaciones. Las patologías respiratorias son la principal y más frecuente manifestación y complicación de las PIDs. Las complicaciones de estas patologías pulmonares constituyen una de las principales causas de morbimortalidad entre los pacientes que sufren PIDs. El diagnóstico temprano y el tratamiento adecuado pueden prevenir, o al menos retrasar, la aparición de las complicaciones respiratorias en estos pacientes. Dado que el espectro de las enfermedades pulmonares es muy amplio, hemos dividido estas complicaciones entre aquellas que afectan a las vías aéreas superiores (sinusitis, otitis media y angioedema laríngeo, etc.) y las que afectan a las vías aéreas bajas (neumonía, bronquitis, bronquiectasias, enfermedades pulmonares intersticiales, neumonía organizada, adenopatías pulmonares y neoplasias, hiperreactividad bronquial, disgenesia pulmonar y las debidas a los efectos secundarios del tratamiento instaurado). Este artículo revisa las manifestaciones respiratorias que se observan más frecuentemente en los pacientes con PIDs. Palabras clave: Inmunodeficiencias primarias. Complicaciones pulmonares. Vías respiratorias altas. Vías respiratorias bajas.

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“…There remains the small possibility that patients with O scores >1, but non-FISH positive, are indeed deleted, due to the presence of a distal deletion, [16] or a smaller deletion that does not contain the TUPLE1 gene, or too small to be detected (<40kb). This speculation may be resolved with the use of the more sensitive screening probes, such as MLPA or SNPs.…”

Section: The New Millenniummentioning

confidence: 99%

predicted v. real prevalence of the 22q11.2 deletion syndrome in children with congenital heart disease presenting to Red Cross War Memorial Children’s Hospital, South Africa: A prospective study

et al. 2016

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Background. The 22q11.2 deletion syndrome (22qDS) has more than 180 associated phenotypic features, yet genotype-phenotype correlation remains obscure. Since many of the clinical characteristics are serious, yet treatable (including congenital heart disease), clinicians must maintain a high index of clinical suspicion to recognise a suite of co-occurring phenotypic features that suggest a diagnosis of 22qDS. Óskarsdottir's scoring schedule (the 'O score') is generally used to suggest the need for confirmatory fluorescent in situ hybridisation (FISH) testing, using the TUPLE 1 probe. An O score of two or more indicates the need for FISH testing. Objectives. A previous audit of FISH-positive results of patients with congenital heart disease at Red Cross War Memorial Children's Hospital (RCWMCH) revealed a clinical recognition rate of 1.7%. However, we were concerned that the syndrome may be under-recognised in our setting. Our aims were therefore to assess the predictive value of 'O scoring' and to accurately determine the prevalence of 22qDS in our patient population. Methods. A prospective trial of FISH testing every new patient with congenital heart disease presenting to RCWMCH was undertaken to accurately determine the prevalence of 22qDS. The results were then compared with the ability of the O score to indicate the need for FISH testing. Results. Testing of 125 patients detected deletions in six (4.8%, 2.8 times the previously determined clinical detection rate), thereby vindicating our concern that 22qDS is under-diagnosed. Of these 125 patients, 37 had an O score of 2 or 3, yet only 6 were FISH-positive, giving the O score a positive predictive value of only 14%. Conclusion. Until a more robust alternative recognition tool is available, South African clinicians should use all clinical recognition criteria liberally to suggest the need for formal testing for 22qDS.

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22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

Cited by 1,437 publications

References 134 publications

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders

predicted v. real prevalence of the 22q11.2 deletion syndrome in children with congenital heart disease presenting to Red Cross War Memorial Children’s Hospital, South Africa: A prospective study

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