ArticleAmerican journal of human genetics1999
Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00556530 (Genetic Modifiers of 22q11.2 Deletion Syndrome), which is not on this map. Cited by 21 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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Modifiers of 22q11.2 Deletion Syndrome
Who cites it
21 citing papers in PubMed, 49 citations in OpenAlex.
- The schizophrenia/bipolar disorder candidate gene GNB1L is regulated in human temporal cortex by a cis-acting element located within the 3'-region.Neuroscience bulletin · 2015Article
- Derivative 11;22 (emanuel) syndrome: a case report and a review.Case reports in pediatrics · 2013Article
- Evidence for involvement of GNB1L in autism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2012Article
- Supportive evidence for reduced expression of GNB1L in schizophrenia.Schizophrenia bulletin · 2010Article
- Persistence of derivative chromosome 22 after achieving a major molecular response in chronic myeloid leukemia with a cryptic BCR-ABL1 fusion gene.International journal of hematology · 2009Article
- Detailed analysis of 22q11.2 with a high density MLPA probe set.Human mutation · 2008Article
- AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.Genome research · 2007Article
- Palindrome-mediated chromosomal translocations in humans.DNA repair · 2006Review
- Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22).American journal of human genetics · 2006Article
- A method for accurate detection of genomic microdeletions using real-time quantitative PCR.BMC genomics · 2005Article
- A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer.Prenatal diagnosis · 2005Article
- Microduplication and triplication of 22q11.2: a highly variable syndrome.American journal of human genetics · 2005Article
- Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.Human genetics · 2003Article
- The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.American journal of human genetics · 2003Article
- Genomic disorders on 22q11.American journal of human genetics · 2002Review
- Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.Genome research · 2001Article
- AT-rich palindromes mediate the constitutional t(11;22) translocation.American journal of human genetics · 2001Article
- Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.American journal of human genetics · 1999Article
- A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.American journal of human genetics · 1999Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Derivative 22 (der[22]) syndrome is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional t(11;22)(q23;q11) translocation, owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. The trisomic region on chromosome 22 overlaps the region hemizygously deleted in another congenital anomaly disorder, velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Most patients with VCFS/DGS have a similar 3-Mb deletion, whereas some have a nested distal deletion endpoint resulting in a 1.5-Mb deletion, and a few rare patients have unique deletions. To define the interval on 22q11 containing the t(11;22) breakpoint, haplotype analysis and FISH mapping were performed for five patients with der(22) syndrome. Analysis of all the patients was consistent with 3:1 meiotic malsegregation in the t(11;22) carrier parent. FISH-mapping studies showed that the t(11;22) breakpoint occurred in the same interval as the 1.5-Mb distal deletion breakpoint for VCFS. The deletion breakpoint of one VCFS patient with an unbalanced t(18;22) translocation also occurred in the same region. Hamster-human somatic hybrid cell lines from a patient with der(22) syndrome and a patient with VCFS showed that the breakpoints occurred in an interval containing low-copy repeats, distal to RANBP1 and proximal to ZNF74. The presence of low-copy repetitive sequences may confer susceptibility to chromosome rearrangements. A 1.5-Mb region of overlap on 22q11 in both syndromes suggests the presence of dosage-dependent genes in this interval.
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