Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

@article{McDonaldMcGinn2011Chromosome2D,
  title={Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)},
  author={Donna M. McDonald-McGinn and Kathleen E. Sullivan},
  journal={Medicine},
  year={2011},
  volume={90},
  pages={1-18}
}
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. The manifestations of this syndrome cross all medical specialties, and care of the children and adults can be complex. Many patients have a mild to moderate immune deficiency, and the majority of patients have a cardiac anomaly. Additional… Expand
The 22q11.2 Deletion Syndrome
The 22q11.2 deletion syndrome is most commonly characterized by facial dysmorphia, palate anomalies, immunodeficiency, hypocalcemia, conotruncal and related cardiac defects, as well as behavioral andExpand
22q11.2 deletion syndrome
TLDR
22q11.2 deletion 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. Expand
Co‐occurrence of 22q11 deletion syndrome and hdr syndrome
TLDR
This is the first known case report of the co‐occurrence of 22q11 deletion syndrome and HDR syndrome, and the importance of carrying out careful clinical and genetic assessment of patients with atypical clinical phenotypes or unique complications is indicated. Expand
Early-onset Parkinson disease leading to diagnosis of 22q11.2 deletion syndrome.
TLDR
A 34-year-old right-handed woman presented to the Movement Disorders Center at the University of Colorado Hospital with progressive tremors and was diagnosed with essential tremor and reported moderate improvement with propranolol; however, her tremors continued to worsen and over the year prior to presentation spread to involve her head, jaw and legs. Expand
More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated
TLDR
This work identified 5 patients with a clinical diagnosis of CHARGE syndrome and a proven 22q11.2 deletion syndrome but without haploinsufficiency of TBX1, and proposed recommendations for the genetic diagnosis of both syndromes. Expand
In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?
TLDR
A functional genomic assessment does not support current theories of single gene haploinsufficiency for one or all 22q11DS phenotypes. Expand
Defects in Thymic Development: DiGeorge/CHARGE/Chromosome 22q11.2 Deletion
TLDR
The symptoms leading to the diagnosis of DiGeorge anomaly, the management of these patients, and the genetic and syndromic associations are described in this chapter. Expand
Clinical phenotype, immunological abnormalities and genomic findings in patients with DiGeorge spectrum phenotype without 22q11.2 deletion.
TLDR
Patients with DGS-like phenotype share the same features of the classical 22q11.2 deletion syndrome associated with other rare genomic alterations, and severe forms of immunodeficiency may also be observed in this group of patients. Expand
Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease.
TLDR
It is interesting the unexpectedly high percentage of congenital heart disease identified in Mexican children with VCFS that also was the main cause for clinical referral. Expand
22q11 Deletion Syndrome
TLDR
One key 22q11.2 gene, Tbx1, appears to be central for some (but not all) craniofacial and cardiac anomalies, but TbX1 is not by itself sufficient to account for many of the other 22q 11DS phenotypes. 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
Chromosome 22q11.2 deletion syndrome: an underestimated cause of neuropsychiatric impairment in adolescence
TLDR
A 17-year-old boy presented with a gradual cognitive and behavioral decline over the last 18 months, which was consistent with significant cerebral dysfunction, and was extensively investigated in a tertiary university centre in order to exclude an underlying neurological disorder. 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
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!
TLDR
Analysis of this first unselected cohort of patients with the 22q11.2 deletion underscores the lack of familial concordance and the current lack of genotype-phenotype correlations in this disorder, and it raises the possibility that the deletion is more common than previously reported. Expand
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
TLDR
Clinical manifestations of immunodeficiency, such as recurrent infection and autoimmune disease, were common in this population but had little relationship to specific immunologic laboratory features. Expand
Research on behavioural phenotypes: velocardiofacial syndrome (deletion 22q11.2)
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
Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.
TLDR
The findings demonstrate that there is a pattern of significant speech disorders within this population of children with a 22q11.2 deletion, and early intervention services are strongly recommended beginning in infancy to address the delays in gross motor skills, speech and language, and global developmental delays. Expand
Ocular findings in children with a microdeletion in chromosome 22q11.2
TLDR
Refractive errors, strabismus, amblyopia and structural ocular abnormalities are frequently encountered in children with a microdeletion in chromosome 22q11.2. Expand
Evans Syndrome in a Patient with Chromosome 22q11.2 Deletion Syndrome: A Case Report
TLDR
The patient reported herein strengthens the association between the 22q11.2 deletion spectrum and Evans syndrome, a hematological autoimmune disorder with autoimmune hemolytic anemia accompanied by immune thrombocytopenia. Expand
Role of TBX1 in human del22q11.2 syndrome
TLDR
The results suggest that the TBX1 mutation is responsible for five major phenotypes in del22q11.2 syndrome, and conclude thatTBX1 is a major genetic determinant of the del22Q11. Expand
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