ArticleJournal of medical genetics1995
Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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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.
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Who cites it
7 citing papers in PubMed, 40 citations in OpenAlex.
- Systematics for types and effects of DNA variations.BMC genomics · 2018Review
- The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNA.Nature communications · 2018Review
- Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.Molecular syndromology · 2012Article
- The C20orf133 gene is disrupted in a patient with Kabuki syndrome.BMJ case reports · 2009Article
- Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.BMC medical genetics · 2008Article
- The C20orf133 gene is disrupted in a patient with Kabuki syndrome.Journal of medical genetics · 2007Article
- Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report.BMC medical genetics · 2005Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We present monozygotic twin boys with features of Kabuki syndrome. The twins were discordant for cleft palate and coarctation of the aorta. The occurrence of Kabuki syndrome in monozygotic twins has not been previously reported and reinforces the belief that this condition has a genetic basis. Chromosomal analysis on the boys showed a pseudodicentric chromosome 13 with an inactive centromere and satellite stalks at 13q12.11: 46,XY,psu dic(13)(13pter-->13q12.11::13p12-->13q11.00:: 13q12.11-->13qter). Their phenotypically normal mother appears to carry the same pseudodicentric chromosome 13.
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Registered trials
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