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• W2085087885 abstract "Pediatrics InternationalVolume 52, Issue 2 p. e67-e71 Paris-Trousseau-type macrothrombocytopenia without 11q deletion Zuhre Kaya, Zuhre Kaya Pediatric Hematology Unit, Department of Pediatrics, andSearch for more papers by this authorUlker Kocak, Corresponding Author Ulker Kocak Pediatric Hematology Unit, Department of Pediatrics, andUlker Kocak, MD, Gazi University School of Medicine, Department of Pediatrics, Pediatric Hematology Unit, Besevler, 06500, Ankara, Turkey. Email: [email protected]Search for more papers by this authorFerda Perçin, Ferda Perçin Departments of Clinical Genetics andSearch for more papers by this authorShinji Kunishima, Shinji Kunishima Department of Hemostasis and Thrombosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, JapanSearch for more papers by this authorMeryem Albayrak, Meryem Albayrak Pediatric Hematology Unit, Department of Pediatrics, andSearch for more papers by this authorTurkiz Gursel, Turkiz Gursel Pediatric Hematology Unit, Department of Pediatrics, andSearch for more papers by this authorCandan Ozogul, Candan Ozogul Histology, Medical School of Gazi University, Ankara, Turkey andSearch for more papers by this author Zuhre Kaya, Zuhre Kaya Pediatric Hematology Unit, Department of Pediatrics, andSearch for more papers by this authorUlker Kocak, Corresponding Author Ulker Kocak Pediatric Hematology Unit, Department of Pediatrics, andUlker Kocak, MD, Gazi University School of Medicine, Department of Pediatrics, Pediatric Hematology Unit, Besevler, 06500, Ankara, Turkey. Email: [email protected]Search for more papers by this authorFerda Perçin, Ferda Perçin Departments of Clinical Genetics andSearch for more papers by this authorShinji Kunishima, Shinji Kunishima Department of Hemostasis and Thrombosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, JapanSearch for more papers by this authorMeryem Albayrak, Meryem Albayrak Pediatric Hematology Unit, Department of Pediatrics, andSearch for more papers by this authorTurkiz Gursel, Turkiz Gursel Pediatric Hematology Unit, Department of Pediatrics, andSearch for more papers by this authorCandan Ozogul, Candan Ozogul Histology, Medical School of Gazi University, Ankara, Turkey andSearch for more papers by this author First published: 25 March 2010 https://doi.org/10.1111/j.1442-200X.2010.03043.xRead 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 Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Kunishima S, Saito H. Congenital macrothrombocytopenias. Blood Rev. 2006; 20: 111–21. 2 Balduini CL, Iolascon A, Savoia A. Inherited thrombocytopenias: From genes to therapy. Hematologica 2002; 87: 860–80. 3 Nichols KE, Crispino JD, Poncz M et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat. Genet. 2000; 24: 266–70. 4 Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH. X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood 2002; 100: 2040–5. 5 Kunishima S, Matsushita T, Kojima T et al. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J. Hum. Genet. 2001; 46: 722–9. 6 Seri M, Pecci A, Di Bari F et al. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 2003; 82: 203–15. 7 Van Geet C, Devriendt K, Eyskens B, Vermylen J, Hoylaerts MF. Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets. Pediatr. Res. 1998; 44: 607–11. 8 Favier R, Douay L, Esteva B et al. A novel genetic thrombocytopenia (Paris Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion at 11q23. C. R. Acad. Sci. III 1993; 316: 698–701. 9 Breton-Gorius J, Favier R, Guichard J et al. A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. Blood 1995; 85: 1805–14. 10 Favier R, Jondeau K, Boutard P et al. Paris-Trousseau syndrome: Clinical, hematological, molecular data of ten new cases. Thromb. Haemost. 2003; 90: 893–7. 11 Grossfeld PD, Mattina T, Lai Z et al. The 11q terminal deletion disorder: A prospective study of 110 cases. Am. J. Med. Genet. A 2004; 129: 51–61. 12 Laleye A, Delneste D, Pradier O, Hans C, Darbaux R, Ogur G. Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization. Am. J. Med. Genet. 2002; 11: 170–5. 13 Giampietro PF, Babu D, Zabel CA et al. Novel clinical features in a child with partial deletion of chromosome 11 [del11(q24.2)]: Further evidence for phenotypic heterogeneity. Am. J. Med. Genet. A 2006; 140: 385–7. 14 Raslova H, Komura E, Le Couedic JP et al. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J. Clin. Invest. 2004; 114: 77–84. 15 Krishnamurti L, Neglia JP, Nagarajan R et al. Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome. Am. J. Hematol. 2001; 66: 295–9. 16 Van Hemel JO, Eussen B, Wesby-van Swaay E, Oostra BA. Molecular detection of a translocation (Y; 11)(q11.2; q24) in a 45,X male with signs of Jacobsen syndrome. Hum. Genet. 1992; 88: 661–7. 17 Aalfs CM, Hoovers JM, Wijburg FA. Molecular analysis of a translocation6,11(p21; q25) in a girl with Jacobsen syndrome. Am. J. Med. Genet. 1999; 86: 398–400. 18 Zahn S, Ehrbecht A, Bosse K et al. Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t11,16 (q24.2; q24.1). Am. J. Med. Genet. 2005; 139: 19–24. 19 Wenger SL, Grossfeld PD, Siu BL, Coad JE, Keller FG, Hummel M. Molecular characterizations of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. Am. J. Med. Genet. A 2006; 140: 704–8. 20 Pivnick EK, Velagaleti GV, Wilroy RS et al. Jacobsen syndrome: Report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11(q23q25) and review of 52 cases. J. Med. Genet. 1996; 33: 772–8. 21 Berrettini S, Forli F, Passetti S et al. Mitochondrial non-syndromic sensorineural hearing loss: A clinical, audiological and pathological study from Italy, and revision of the literature. Biosci. Rep. 2008; 28: 49–59. 22 Olson TA, Levine RF, Kelleher J. Familial thrombocytopenia with micromegakaryocytes. Am. J. Pediatr. Hematol. Oncol. 1992; 14: 248–54. 23 Tamary H, Yaniv I, Stein J et al. A clinical and molecular study of a Bedouin family with dysmegakaryopoiesis, mild anemia, and neutropenia cured by bone marrow transplantation. Eur. J. Haematol. 2003; 71: 196–203. Volume52, Issue2April 2010Pages e67-e71 ReferencesRelatedInformation" @default.
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