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X-Linked Dominant Congenital Ptosis Cosegregating with an Interstitial Insertion of a Chromosome 1p21.3 Fragment into a Quasipalindromic sequence in Xq27.1

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open Journal of Genetics 2014年第6期4卷 415-425页

作者： David J. Bunyan David o. Robinson Anthony G. Tyers shuwen Huang Vivienne K. Maloney francis H. Grand sarah Ennis samantha R. de silva John A. Crolla Tristan F. W. McMullan Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury UK Human Genetics Division Southampton University School of Medicine Southampton UK ophthalmology department Salisbury District Hospital Salisbury UK Manchester Centre for Genomic Medicine Saint Mary’s Hospital Manchester UK Genetic Epidemiology and Genomic Informatics Group Faculty of Medicine University of SouthamptonSouthampton UK oxford Eye Hospital John Radcliffe Hospital Oxford UK ophthalmology department Northampton General Hospital Northampton UK

Blepharoptosis (ptosis) is defined as the abnormal drooping of the upper eyelid and is a feature of many conditions. It can be in isolated or syndromic form, bilateral or unilateral and congenital or acquired. Previously we have carried out linkage analysis on a family with dominantly inherited congenital bilateral isolated ptosis and found the condition to be linked to a region of approximately 20 megabases of chromosome Xq24-Xq27.1 with a cumulative LoD score of 5.89. We now describe further analysis.us.ng array comparative genomic hybridisation (array CGH), fluorescence in situ hybridisation (FIsH), long range PCR and sequencing. This has enabled us to identify and characterise at the level of DNA sequence an insertional duplication and rearrangement involving chromosomes 1p21.3 and a small quasipalindromic sequence in Xq27.1, disruption of which has been associated with other phenotypes but which is cosegregating with X-linked congenital bilateral isolated ptosis in this family. This work highlights the significance of the small quasipalindromic sequence in genomic rearrangements involving Xq27.1 and the importance of comprehensive molecular and molecular cytogenetic investigations to fully characterise genomic structural complexity.

关键词： Ptosis X-Linked Dominant Insertional Duplication

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An international survey of classification and treatment choices for group D retinoblastoma

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International Journal of ophthalmology(English edition) 2017年第6期10卷 961-967页

作者： Christina scelfo Jasmine H francis Vikas Khetan Thomas Jenkins Brian Marr David H Abramson Carol L shields Jacob Pe’er francis Munier Jesse Berry J.William Harbour Andrey Yarovoy Evandro Lucena Timothy G Murray Pooja Bhagia Evelyn Paysse samuray Tuncer Guillermo L Chantada Annette C Moll Tatiana ushakova David A Plager Islamov Ziyovuddin Carlos A Leal Miguel A Materin Xun-Da Ji Jose W Cursino Rodrigo Polania Hayyam Kiratli Charlotta All-Ericsson Rejin Kebudi santosh G Honavar Vicktoria Vishnevskia-Dai sidnel Epelman Anthony B Daniels Jeanie D Ling Fousseyni Traore Marco A Ramirez-ortiz ophthalmic oncology service Department of Surgery Memorial Sloan Kettering Cancer Center New York 10065 USA department of ophthalmology Weill-Cornell Medical Center New York 10065 USA department of Vitreoretinal and ocular oncology Sankara Nathralaya Chennai 600066 India ocular ontology service Wills Eye Hospital Thomas Jefferson University Pennsylvania 19107 USA Hadassah - Hebrew University Medical Center Jerusalem 91120 Israel jules-Gonin Eye Hospital Lausanne 1004 Switzerland usC Roski Eye Institute Children＇s Hospital of Los Angeles California 90033 USA ocular oncology service Bascom Palmer Eye Institute University of Miami Miller School of Medicine Florida 33136 USA ocular oncology department S.N. Fyodorov Eye Microsurgery Federal State Institution Moscow 127486 Russia department of ocular oncology Instituto Nacional de Cancer Rio de Janeiro 1122 Brazil Murray ocular oncology and Retina Miami Children＇s Hospital Florida 33143 USA st. Joseph＇s Children＇s Hospital New Jersey 07504 USA department of ophthalmology Baylor College of Medicine Texas 77030 USA department of ophthalmology Ocular Oncology Istanbul Medical Faculty Istanbul University Istanbul 34452 Turkey oncology department Hospital JP Garrahan Buenos Aires 1245 Argentina department of ophthalmology VU University Medical Center Amsterdam 1081 the Netherlands department of Head and Neck Tumors Science Research Institute of Pediatric Oncology and Hematology N.N. Blokhin Russian Cancer Research Center Moscow 115478 Russia Pediatric ophthalmology and Adult strabismus Riley Hospital for Children Indiana University Medical Center Indiana 46202 USA National oncology Center of Uzbekistan Tashkent 110508 Uzbekistan nstituto Nacional de Pediatria Coyoacan 04530 Mexico department of ophthalmology and Visual science Smilow Cancer Hospital at Yale New Haven CT 06520 USA Xin Hua Hospital Shanghai Jiao Tong University School of Medicine Shanghai 200092 China department of ophthalmology Santa Casa Mi

AIM： To determine which IIRC scheme was.us.d by retinoblastoma centers worldwide and the percentage of D eyes treated primarily with enucleation versus globe salvaging therapies as well as to correlate trends in treatment choice to IIRC version used and geographic region. METHoDs： An anonymized electronic survey was offered to 115 physicians at 39 retinoblastoma centers worldwide asking about IIRC classification schemes and treatment patterns.us.d between 2008 and 2012. Participants were asked to record which version of the IIRC was.us.d for classification, how many group D eyes were diagnosed, and how many eyes were treated with enucleation versus globe salvaging therapies. Averages of eyes per treatment modality were calculated and stratified by both IIRC version and geographic region. statistical significance was determined by Chi-square, ANoVA and Kruskal-Wallis tests.us.ng Prism. REsULTs： The survey was completed by 29% of physicians invited to participate. Totally 1807 D eyes were diagnosed. Regarding IIRC system, 27% of centers.us.d the Children＇s Hospital of Los Angeles （CHLA） version, 33% used the Children＇s oncology Group （CoG） version, 23% used the Philadelphia version, and 17% were unsure. The rate for primary enucleation varied between 0 and 100% and the mean was 29%. By IIRC version, primary enucleation rates were： Philadelphia, 8%; CoG, 34%; and CHLA, 37%. By geographic region, primary enucleation rates were： Latin America, 57%; Asia, 40%; Europe, 36%; Africa, 10%, us, 8%; and Middle East, 8%. However, systemic chemoreduction was.us.d more often than enucleation in all regions except Latin America with a mean of 57% per center （P〈0.0001）. CoNCLusIoN： Worldwide there is no consensus on which IIRC version is.us.d, systemic chemoreduction was the most frequently used initial treatment during the study period followed by enucleation and primary treatment modality, especially enucleation, varied greatly with regards to IIRC version used and geographic r

关键词： retinoblastoma oncology retina enucleation chemotherapy intra-arterial chemotherapy ophthalmic arterychemosurgery cancer

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