Title: Severe phenotypes associated with inactive ring X chromosomes
Abstract: American Journal of Medical GeneticsVolume 93, Issue 1 p. 52-57 Severe phenotypes associated with inactive ring X chromosomes Barbara R. Migeon, Corresponding Author Barbara R. Migeon [email protected] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MarylandCMSC 10-04, The Johns Hopkins Hospital, 600 N Wolfe Street, Baltimore, MD 21287-3914Search for more papers by this authorMargareet Ausems, Margareet Ausems Department of Medical Genetics, University Medical Center, Utrecht, The NetherlandsSearch for more papers by this authorJacques Giltay, Jacques Giltay Department of Medical Genetics, University Medical Center, Utrecht, The NetherlandsSearch for more papers by this authorCamille Hasley-Royster, Camille Hasley-Royster McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MarylandSearch for more papers by this authorEthan Kazi, Ethan Kazi McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MarylandSearch for more papers by this authorThomas J. Lydon, Thomas J. Lydon McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MarylandSearch for more papers by this authorJohn J.M. Engelen, John J.M. Engelen Department of Molecular Cell Biology and Genetics, University of Maastricht, The NetherlandsSearch for more papers by this authorGerald V. Raymond, Gerald V. Raymond The Kennedy-Krieger Institute, Baltimore, MarylandSearch for more papers by this author Barbara R. Migeon, Corresponding Author Barbara R. Migeon [email protected] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MarylandCMSC 10-04, The Johns Hopkins Hospital, 600 N Wolfe Street, Baltimore, MD 21287-3914Search for more papers by this authorMargareet Ausems, Margareet Ausems Department of Medical Genetics, University Medical Center, Utrecht, The NetherlandsSearch for more papers by this authorJacques Giltay, Jacques Giltay Department of Medical Genetics, University Medical Center, Utrecht, The NetherlandsSearch for more papers by this authorCamille Hasley-Royster, Camille Hasley-Royster McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MarylandSearch for more papers by this authorEthan Kazi, Ethan Kazi McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MarylandSearch for more papers by this authorThomas J. Lydon, Thomas J. Lydon McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MarylandSearch for more papers by this authorJohn J.M. Engelen, John J.M. Engelen Department of Molecular Cell Biology and Genetics, University of Maastricht, The NetherlandsSearch for more papers by this authorGerald V. Raymond, Gerald V. Raymond The Kennedy-Krieger Institute, Baltimore, MarylandSearch for more papers by this author First published: 12 June 2000 https://doi.org/10.1002/1096-8628(20000703)93:1<52::AID-AJMG9>3.0.CO;2-9Citations: 22Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract Mental retardation and congenital malformations in individuals with small ring X chromosomes are often due to the functional disomy that results from failure of these chromosomes to undergo X inactivation. Such chromosomes either lack the XIST locus or do not express it. We have carried out genetic analysis of the ring X chromosomes from two girls with a 45,X/46,X,r(X) karyotype, mental retardation, and a constellation of abnormalities characteristic of the severe phenotype due to X disomy. In each case the ring X chromosome included an intact XIST locus which was expressed; the breakpoints were distal to DXS128, and therefore outside the XIC region; transcription analysis of alleles at the androgen receptor locus confirmed that these were inactive chromosomes. The characteristics of the XIST RNA were similar to the wild-type. Additional studies in cultured fibroblasts showed a second ring in a small percentage of the cells. The association of severe phenotype with an inactive X chromosome most likely reflects the presence of a second ring X chromosome which was active at least in some tissues during embryogenesis, but is no longer prominent in the tissues we analyzed. Am. J. Med. Genet. 93:52–57, 2000. Citing Literature Volume93, Issue13 July 2000Pages 52-57 RelatedInformation
Publication Year: 2000
Publication Date: 2000-01-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 28
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