ArticleHuman genetics1996
Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.
Article in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 48 citations in OpenAlex.
- Trial
- Genetic variation in folate metabolism is associated with the risk of conotruncal heart defects in a Chinese population.BMC pediatrics · 2018Article
- Article
- Investigating 22q11.2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography.Pediatric cardiology · 2010Article
- Periconceptional nutrient intakes and risks of conotruncal heart defects.Birth defects research. Part A, Clinical and molecular teratology · 2010Article
- Increased prevalence of cardiovascular defects among 56,709 California twin pairs.American journal of medical genetics. Part A · 2009Article
- Chromosomal abnormalities among children born with conotruncal cardiac defects.Birth defects research. Part A, Clinical and molecular teratology · 2009Article
- Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).Images in paediatric cardiology · 2005Article
- 22q11 deletion syndrome: a genetic subtype of schizophrenia.Biological psychiatry · 1999Review
- 22q11 deletion syndrome in adults with schizophrenia.American journal of medical genetics · 1998Article
- Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.Journal of medical genetics · 1997Article
- Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.Journal of medical genetics · 1997Article
- How many breaks do we need to CATCH on 22q11?American journal of human genetics · 1996Review
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Molecular studies have shown microdeletions in region q11 of chromosome 22 in nearly all patients with DiGeorge, velocardiofacial and conotruncal anomaly face syndromes (DGS, VCFS and CTAFS, respectively) and in a high percentage of non-syndromic familial cases of conotruncal defects (CTD). CTD account for roughly a fourth to a third of all non-syndromic congenital heart defects (CHD), thus, 22q11 could harbor a major genetic factor of CHD. We searched for a 22q11 microdeletion in familial cases of non-syndromic CTD. Thirty-six cases of various isolated CTD, that is without history of hypocalcemia, immune deficiency, absent thymus, and dysmorphic appearance, were selected. With 48F8, a cosmid probe localized in the smallest deleted region of the DiGeorge critical region (DGCR), we found no deletions by fluorescence in situ hybridization in these 36 affected individuals of 16 families with recurrent CTD. Moreover, D22S264, a microsatellite localized at the distal part of the largest deleted region, was used to genotype the patients. Thirty-two patients out of 37 were heterozygous and hence not deleted at this locus, whereas 5 were uninformative. In conclusion, there are no large deletions in familial cases of various CTD, whether these defects are identical or not within a family. This result does not rule out other minor anomalies in this chromosomal region.
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