Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (28)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by S.P.Rose, C.
Right arrow Articles by M.Winter, R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by S.P.Rose, C.
Right arrow Articles by M.Winter, R.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1994 Oxford University Press

RESEARCH-ARTICLE

Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of Ihromosome 7 using four cases with apparently balanced translocations at 7p21.2

Charlotte S.P.Rose, Alexandra A.J.King, Doreen Summers1, Roger Palmer1, Samuel Yang2, Andrew O.M. WIIkle3, William Reardon, Sue Malcolm and Robin M.Winter*

Unrts of Molecular Genetics and Clinical Genetics and FetaJ Medicine, Institute of Child Health 30 Guifford Street London WC1N 1EH 1Regional Cytogenetics Unit, Queen Elizabeth Hospital for Children London E2 8PS, UK 2611 El Toro Way, Davis CA 95616, USA 3Institute of Molecular Medicine, John Radclrffe Hospital, Headington Oxford 0X3 9DU, UK

* To whom correspondence should be addressed

Received May 4, 1994; Accepted June 2, 1994

Saethre - Chotzen syndrome is a common autosomal dominant form of cranlosynostosls, which results In the premature fusion of cranial sutures. Cranlosynostosls is commonly associated with abnormalities of 7p; Vortkamp et al. (Nature 352, 539 – 540) demonstrated that the GLI3 gene In 7p13 was disrupted in, patients with Greig syndrome and, more recently, the linkage of genetic markers from 7p with the Saethre - Chotzen syndrome locus has been reported (2, 3). Here we report the analysis by fluorescence In situ hybridization of four patients with Saethre-Chotzen syndrome associated with apparently balanced translocatlons Involving band 7p21.2 and different reciprocal chromosomes. We show that In all four patients the breakpoints in 7p are situated within a 6 cM region flanked by the genetic markers D7S488 and D7S493. These results provide further evidence that the genetic locus for Saethre-Chotzen syndrome is located in distal 7p.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Genome ResHome page
J W Touchman, G G Bouffard, L A Weintraub, J R Idol, L Wang, C M Robbins, J C Nussbaum, M Lovett, and E D Green
2006 expressed-sequence tags derived from human chromosome 7-enriched cDNA libraries.
Genome Res., March 1, 1997; 7(3): 281 - 292.
[Abstract] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.