ReviewHuman genetics1995
Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.
Review in Human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 68 citations in OpenAlex.
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.NeuroImage · 2010Review
- Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.Molecular and cellular biochemistry · 2007Article
- Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.BMC medical genetics · 2007Article
- Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.Human molecular genetics · 2004Article
- Prenatal diagnosis by FISH of a 22q11 deletion in two families.Journal of medical genetics · 1998Article
- Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.Journal of medical genetics · 1997Article
- The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.American journal of human genetics · 1996Article
- Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.American journal of human genetics · 1996Article
- Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.Human genetics · 1996Article
Corrections and comments
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Authors and funding
10 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have determined the parental origin of the deleted chromosome 22 in 29 cases of DiGeorge syndrome (DGS) using a CA-repeat mapping within the commonly deleted region, and in one other case by using a chromosome 22 short arm heteromorphism. The CA-repeat was informative in 21 out of 29 families studied and the deleted chromosome was of maternal origin in 16 cases (72%). When these data are pooled with recent results from the literature, 24 de novo DGS, velo-cardio-facial syndrome (VCFS) and isolated conotruncal cardiac disease deletions are found to be of maternal origin and 8 of paternal origin, yielding a chi 2 of 8 with a probability level lower than 0.01. These data, and review of the literature on familial DGS/VCFS and isolated conotruncal cardiopathies suggest that there is a strong tendency for the 22q11.2 deletions to be of maternal origin.
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