The Diverse Clinical Features of Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome)

Maggadóttir, Sólrún Melkorka; Sullivan, Kathleen E.

doi:10.1016/j.jaip.2013.08.003

Cited by 50 publications

(45 citation statements)

References 67 publications

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“…Prophylactic antibiotics represent an approach that can provide some relief, and immunoglobulin replacement should be offered to those with demonstrated humoral defects. Patients with autoimmune diseases are typically managed using strategies that are appropriate for patients with autoimmune diseases without 22q11.2DS, but immune suppression should be minimized 210 .…”

Section: Managementmentioning

confidence: 99%

22q11.2 deletion syndrome

McDonald‐McGinn

Sullivan

Marino

et al. 2015

Nat Rev Dis Primers

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22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population.

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Section: Managementmentioning

confidence: 99%

22q11.2 deletion syndrome

McDonald‐McGinn

Sullivan

Marino

et al. 2015

Nat Rev Dis Primers

Self Cite

1,131

1,133

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“…A diverse clinical spectrum has been demonstrated with the syndrome. 26,27 There are multiple reports linking the DiGeorge genetic abnormality to absent olfactory bulbs.…”

Section: 24mentioning

confidence: 99%

Spectrum of Clinical and Associated MR Imaging Findings in Children with Olfactory Anomalies

Booth

Rollins

2016

American Journal of Neuroradiology

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“…According to 2016 Clinical Practice Guidelines From the Cystic Fibrosis Foundation for Preschoolers With Cystic Fibrosis (Lahiri et al, 2016), children should receive age-appropriate immunizations and annual seasonal influenza vaccination along with family members and caregivers. Furthermore, it is recommended that 22q11.2DS patients with autoimmune diseases should be managed with minimal immunosuppression treatment if possible (Maggadottir & Sullivan, 2013). Patients with CF may require a lung transplant at a certain stage of their life and disease, which would be accompanied by subsequent necessary immunosuppression.…”

Section: Discussionmentioning

confidence: 99%

22q and two: 22q11.2 deletion syndrome and coexisting conditions

Cohen

Crowley

McGinn

et al. 2018

American J of Med Genetics Pt A

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22q11.2 deletion syndrome (DS) is the most frequent copy number variant (CNV) affecting ~1/1,000 fetuses and ~1/2,000–4,000 children, resulting in recognizable but variable findings across multiple organ systems. Patients with atypical features should prompt consideration of coexisting diagnoses due to additional genome-wide mutations, CNVs, or mutations/CNVs on the other allele, unmasking autosomal recessive conditions. Importantly, a dual diagnosis compounds symptoms and impacts management. We previously reported seven patients with 22q11.2DS and: SCID, Trisomy 8 mosaicism, Bernard-Soulier, and CEDNIK syndromes. Here we present six additional unreported patients with 22q11.2DS and concurrent diagnoses. Records on 1,422 patients with 22q11.2DS, identified via FISH, microarray, or MLPA, followed in our 22q and You Center at the Children’s Hospital of Philadelphia (CHOP) were reviewed to identify a dual diagnosis. In addition to our seven previously reported cases, we identified an additional six with 22q11.2DS and another coexisting condition identified via: molecular/cytogenetic studies, newborn screening, coagulation factor studies, or enzyme testing; these include CHARGE syndrome (CHD7 mutation), cystic fibrosis, a maternally inherited 17q12 deletion, G6PD deficiency, von Willebrand disease, and 1q21.1 deletion, resulting in an incidence of dual diagnoses at our center of 0.9%. The range of dual diagnoses identified in our cohort is notable, medically actionable, and may alter long-term outcome and recurrence risk counseling. Thus, our findings may support testing patients with 22q11.2DS using a combination of microarray, mutational analysis of the other allele/WES, to ensure appropriate personalized care, as formulating medical management decisions hinges on establishing the correct diagnoses in their entirety.

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The Diverse Clinical Features of Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome)

Cited by 50 publications

References 67 publications

22q11.2 deletion syndrome

22q11.2 deletion syndrome

Spectrum of Clinical and Associated MR Imaging Findings in Children with Olfactory Anomalies

22q and two: 22q11.2 deletion syndrome and coexisting conditions

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