Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

@article{Kobrynski2007VelocardiofacialSD,
  title={Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes},
  author={Lisa J. Kobrynski and Kathleen E. Sullivan},
  journal={The Lancet},
  year={2007},
  volume={370},
  pages={1443-1452}
}
Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in common a high frequency of hemizygous deletions of chromosome 22q11.2. This deletion syndrome is very common, affecting nearly one in 3000 children. Here, we focus on recent advances in cardiac assessment, speech, immunology, and pathophysiology of velocardiofacial syndrome. The complex medical care of patients needs a multidisciplinary approach, and every patient has his own unique clinical features that… Expand

Paper Mentions

Interventional Clinical Trial
Our research group has shown that almost all children with congenital heart disease (CHD) are vitamin D deficient following heart surgery. This work strongly suggests that the vitamin D… Expand
ConditionsHeart Defects, Congenital, Pediatric Disorders, Thoracic Surgery, (+1 more)
InterventionDietary Supplement
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  • A. Gennery
  • Biology, Medicine
  • Cellular and Molecular Life Sciences
  • 2011
TLDR
Chromosome 22q11 deletion is the most common chromosomal deletion syndrome and is found in the majority of patients with DiGeorge syndrome and velo-cardio-facial syndrome, and new insights into pathophysiology are reviewed. Expand
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  • 2017
DiGeorge Syndrome results from microdeletion in a small segment of chromosome 22. When inherited from parents, it follows an autosomal dominant pattern. There are variable clinical features relatedExpand
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  • 2018
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Clinical Manifestations of 22q11.2 Deletion Syndrome.
TLDR
The aim of this review is to address cardiovascular and systemic involvement in children with DGS, provide genotype-phenotype correlations, and discuss their medical management and therapeutic options. Expand
Síndrome de DiGeorge/velocardiofacial: reporte de un caso
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The process by which the DiGeorge syndrome diagnosis, management and prognosis was reached, as well as a brief review of the literature, are presented. Expand
Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome.
Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), the most common micro-deletion disorder in humans, is characterized by craniofacial, parathyroid, and thymic defects as well as cardiacExpand
Phenotypic Features Chromosome 22 q 11 . 2 Deletion Syndrome : A Comparison of Immunologic and Development , Genital Hypoplasia
OBJECTIVES.CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome are known toExpand
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TLDR
The medical features of this disorder include hypocalcemia, immunodeficiency, cleft palate, subtle facial dysmorphism, ‘conotruncal’ cardiac malformations (e.g. truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, and certain types of ventricular septal defects), and other congenital malformation. Expand
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TLDR
A cohort of 250 patients whose clinical findings help to define the extremely variable phenotype associated with the 22q11.2 deletion are described and may assist clinicians in providing genetic counseling and guidelines for clinical management based on these findings. Expand
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TLDR
It is concluded that the presence of the gene deletion does not predict the phenotypic expression in VCF, and the importance of continued surveillance of all patients with VCF for the many medical problems that may not be present at initial diagnosis. Expand
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TLDR
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TLDR
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TLDR
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TLDR
A 13% prevalence of IgA deficiency in patients with the chromosome 22q11.2 deletion syndrome is reported, which confirms the occurrence of significant humoral deficits in this predominantly cellular immunodeficiency. Expand
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TLDR
The research on VCF illustrates several important methodological considerations for behavioral phenotype research that others have noted, and has implications not only for the clinical care of patients with VCF, but also for broader issues related to developmental cognitive psychology and to the pathogenesis of psychiatric disease. Expand
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TLDR
This research presents a novel and scalable approach that aims to provide real-time information about the iron status of iron-containing materials in the blood of mice and its role in the immune response to disease. Expand
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TLDR
The high frequency of the 22q11 microdeletion syndrome, estimated at 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications. Expand
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