DiGeorge syndrome: part of CATCH 22.
Journal of Medical GeneticsPublished 1 October 1993Open access
David I. Wilson, John Burn, Peter Scambler, Judith Goodship
Citations511
SJR quartileQ1
SJR score1.62
SNIP1.40
Generate an AI Snapshot to get a quick, structured summary of this paper.
Study Snapshot
ObjectiveStudy objective
MethodsResearch methodology
PopulationPopulation studied
Sample sizeSample sizes
OutcomesStudy outcomes here
ResultsStudy results comes here
LimitationsResearch study limitations comes here
A concise AI-generated summary of the paper will appear here once you click Generate AI Snapshot.
TL;DR
It is proposed that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.
Abstract
DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11. We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
The LancetSystemic treatment of early breast cancer by hormonal, cytotoxic, or immune therapy
2,189 Citations1992Early Breast Cancer Trialist's Collaborative Group
PubMedA new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.
598 Citations1978Robert J. Shprintzen, Rosalie Goldberg +5 more
A pattern of similarities among 12 patients is described which is felt to represent a newly recognized congenital malformation syndrome and the symptoms shown most consistently by the 12 patients were overt or submuscous clefts of the secondary palate, ventricular septal defects, typical facies, and learning disabilities.
PubMedA genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.
425 Citations1992D.A. Driscoll, Marcia L. Budarf +1 more
Clinical, cytogenetic, and molecular studies of 14 patients with DiGeorge syndrome suggest that parent of origin or imprinting does not appear to play an important role in the pathogenesis of DGS, and deletion of the same three loci in all 14 DGS probands begins to delineate the region of chromosome 22 critical for DGS.
The LancetVelo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
417 Citations1992Peter Scambler, David A. Kelly +8 more
Preliminary data is presented that velocardiofacial syndrome patients have similar chromosome deletions, a finding consistent with the hypothesis that these disorders represent part of a spectrum of abnormalities seen with monosomy for 22q11.
American Journal of Medical GeneticsDeletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndrome
387 Citations1992Deborah A. Driscoll, Nancy B. Spinner +10 more
Deletions of the same loci previously shown to be deleted in patients with DGC explains the overlapping phenotype of VCFS and the DGC and supports the hypothesis that the cause of these two disorders is the same.
Human GeneticsA deletion in chromosome 22 can cause digeorge syndrome
381 Citations1981Albert de la Chapelle, Riitta Herva +2 more
Data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.
PEDIATRICSThe Velo-Cardio-Facial Syndrome: A Clinical and Genetic Analysis
297 Citations1981Robert J. Shprintzen, Rosalie Goldberg +2 more
There was no particular difference in expression between male and female patients so that even though X-linked dominant transmission is possible, the velo-cardio-facial syndrome is likely to be an autosomal dominant recurrent pattern syndrome.
PubMedSystemic treatment of early breast cancer by hormonal, cytotoxic, or immune therapy. 133 randomised trials involving 31,000 recurrences and 24,000 deaths among 75,000 women. Early Breast Cancer Trialists' Collaborative Group.
240 Citations1992
In old age (70+) tamoxifen is of demonstrated efficacy, but chemotherapy has not been evaluated, and direct and indirect randomised comparisons show long-term polychemotherapy to be no better than shorter (eg, 6 months) regimens, but do show polyche Motherhood to be significantly better than single-agent chemotherapy.
GenomicsMicrodeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
235 Citations1991Peter Scambler, Alisoun H. Carey +5 more
Molecular genetic analysis with probes from 22q11-pter reveals that a subset of markers is hemizygous in DGS patients with normal karyotypes, and antenatal diagnosis will be a possibility for mildly affected parents unwilling to risk the birth of a severely affected child.
PubMedMolecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.
158 Citations1992A H Carey, David A. Kelly +8 more
This study prospectively analyzed patients, by using DNA markers from 22q11, to assess the frequency of 22Q11 rearrangements in DiGeorge syndrome, finding that 33 of 35 DGS patients had chromosome 22q 11 deletions detectable by DNA probes.
The LancetDeletions within chromosome 22q11 in familial congenital heart disease
156 Citations1992David I. Wilson, Judith A. Goodship +3 more
It is proposed that deletions within band q11 of chromosome 22 are an important cause of familial heart defects in DiGeorge and Shprintzen syndromes.
HeartDiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.
96 Citations1991David I. Wilson, I E Cross +8 more
Ch Chromosome analysis showed that the mother, and her three offspring with heart defects had a 22q11 interstitial deletion, which was confirmed by molecular analysis and suggests that 22Q11 deletions can cause apparently isolated heart defects and that the range of these defects may be wider than previously recognised.
Pediatric CardiologySpectrum of Di George syndrome in patients with truncus arteriosus: Expanded Di George syndrome
51 Citations1988Dorothy J. Radford, Lisa M. Perkins +2 more
Patients with truncus arteriosus belong to the spectrum of the Di George syndrome, according to laboratory evidence of immune deficiency, especially T-helper lymphocytes, and clinical evidence of predilection to infection.
Archives of Disease in ChildhoodNoonan's and DiGeorge syndromes with monosomy 22q11.
37 Citations1993David I. Wilson, S B Britton +5 more
A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported, and molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region deleted in DiGeorge syndrome.
Journal of Paediatrics and Child HealthTruncus arteriosus and facial dysmorphism
10 Citations1985Dorothy J. Radford