Micromegakaryocytes in a patient with partial deletion of the long arm of chromosome 11 [del(11)(q24.2qter)] and chronic thrombocytopenic purpura

American Journal of Medical Genetics

Volumn 62, Issue 2, 1996, Pages 120-123

  Gangarossa, Simone ^a   Mattina, Teresa ^a   Romano, Vincenzo ^a   Milana, Gabriella ^a   Mollica, Florindo ^a   Schilirò, Gino ^a  

^a UNIVERSITY OF CATANIA   (Italy)

Author keywords

chromosome 11q deletion; micromegakaryocytes

Indexed keywords

DNA BINDING PROTEIN;

ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CHILD; CHROMOSOME 11Q; CHROMOSOME DELETION; GENE LOCATION; GENE MAPPING; HEMATOPOIESIS; HUMAN; MALE; MEGAKARYOCYTE; PANCYTOPENIA; PRIORITY JOURNAL; THROMBOCYTE ANOMALY; THROMBOCYTOPENIA; THROMBOCYTOPENIC PURPURA;

EID: 0029875732     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19960315)62:2<120::aid-ajmg4>3.0.co;2-%23     Document Type: Article

References (23)

1. Adams B, Leung K, Meltzer P, Lewis K, Wagner-McPhorson C, Evans G, Nabel G (1992): Localization of the gene encoding RkB (NFRKB), a tissue-specific DNA binding protein to chromosome 11q24-25. Genomics 14:270-274.
2. Ben-David Y, Giddens E, Letwin K, Bernstein A (1991): Erythroleukemia induction by Friend murine leukemia virus: Insertional activation of a new member of the ets gene family, Fli-1, closely linked to ets-1. Genes Dev 5:908-918.
3. de Alarcon PA, Graeve JA, Levine RF, McDonald TP, Beal DW (1991): Thrombocytopenia and absent radii syndrome. Defective megakariocytopoiesis-thrombocytopoiesis. Am J Ped Hematol 13(1):77-83.
4. Debili N, Massè J-M, Katz A, Guichard J, Breton-Gorius J, Vainchenker W (1993): Effect of the recombinant hematopoietic growth factor interleukin-3, interleukin-6, stem cell factor, and leukemia inhibitor factor on the megakaryocytic differentiation of CD 34+ cells. Blood 82:84-95.
5. de Sauvage FJ, Hass PE, Spencer SD, Malloy BE, Gurney AL, Spencer SA, Darbonne WC, Henzel WJ, Wong SC, Kuang W-J, Oles KJ, Hultgren B, Solberg LA Jr, Goeddel DV, Eaton DL (1994): Stimulation of megakaryocytopoiesis and thrombopoiesis by the c-Mpl ligand. Nature (London) 369:533-538.
6. Gangarossa S, Romano V, Munda SE, Sciotto A, Schilirò G (1995): Low serum levels of interleukin-6 in children with post-infective acute thrombocytopenic purpura. Eur J Hematol, 55:117-120.
7. Harker LA, Finch CA (1969): Thrombokinetics in man. J Clin Invest 48:963-974.
8. Jackson CW, Dahl GV (1983): Relationship of megakaryocyte size at diagnosis to chemotherapeutic response in children with acute non-lymphocytic leukemia. Blood 61:867-870.
9. Kaushansky K, Lok S, Holly RD, Broudy VC, Lin N, Bailey MC, Forstrom JW, Buddle MM, Dort PJ, Hagen FS, Roth GJ, Papayannopoulou T, Foster DC (1994): Promotion of megakaryocyte progenitor expansion and differentiation by the c-mpl ligand thrombopoietin. Nature (London) 369:568-571.
10. Kuriyama K, Tomonaga M, Matsuo I, Grinnai I, Ichimaru M (1986): Diagnostic significance of detecting pseudo-Pelger-Huet anomalies and micromegakaryocytes in myelodysplastic syndrome. Br J Haematol 63:665-669.
11. Küster W, Gebauer H, Majewski F, Lenard H (1985): Report of a deletion 11 (qter→q23.3) and short review of the literature. Eur J Pediatr 144:286-288.
12. Levine RF, Bunn PA Jr, Hazzard KC, Schlam ML (1980): Flow cytometric analysis of megakaryocyte ploidy. Comparison with Feulgen microdensitometry and discovery that 8N is the predominant ploidy class in guinea pig and monkey marrow. Blood 56:210-222.
13. Levine RF, Hazzard KC, Lamberg JD (1982): The significance of megakaryocytes size. Blood 60:1122-1131.
14. Lok S, Kaushansky K, Holly RD, Kuijper JL, Lofton-Day CE, Oort PJ, Grant FJ, Heipel MD, Burkhead SK, Kramer JM, Bell LA, Sprecher CA, Blumberg H, Johnson R, Prunkard D, Ching AFT, Mathewes S, Bailey MC, Forstrom JSV, Buddle MM, Osborn SG, Evans SJ, Sheppard PO, Presnell SR, O'Hara PJ, Hagen FS, Roth GJ, Foster DC (1994): Cloning and expression of murine thrombopoietin cDNA and stimulation of platelet production in vivo. Nature (London) 369:565-568.
15. MacLeod K, Leprince D, Stehellin D (1992): The ets gene family. Trend Biochem Sci 17:251-256.
16. Neavel CB, Soukup S (1994): Deletion of (11)(q24.2) in a mother and daughter with similar phenotypes. Am J Med Genet 53:321-324.
17. O'Hare AE, Grace E, Edmunds AT (1984): Deletion of the long arm of chromosome 11 [46,XX,del(11)(q24.1→qter)]. Clin Genet 25:373-377.
18. Olson TA, Levine RF, Kelleher J (1992): Familial thrombocytopenia with micromegakaryocytes. Am J Ped Hematol/Oncol 14(3):248-254.
19. Penny LA, del Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns JP, Grace E, Graham JM Jr, Kousseff B, Mattina T, Syme J, Voullaire L, Zelante L, Zenger-Hain J, Jones OW, Evans GA (1995): Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 56:676-683.
20. Selleri L, Giovannini M, Hermanson G, Romo A, Quakenbush J, Penny L, Khristich J (1994): Yeast artificial chromosome cloning of 3.2 megabases within chromosomal band 11q24 closely linking c-ets and fli-1 and encompassing the Ewing's sarcoma breakpoint. Genomics 22:137-147.
21. Smith WB, Ablin A, Goodman Jr, Forecher G (1973): Atypical megakaryocytes in preleukemic phase of acute myeloid leukemia. Blood 7:214-224.
22. Wardinsky TD, Weinberger E, Pagon RA, Clarren SK, Thuline HC (1990): Partial deletion of the long arm of chromosome 11 (del(11) (q23.3→qter)) with abnormal white matter. Am J Med Genet 35: 60-63.
23. Wendung F, Maraskovsky E, Debili N, Florindo C, Teepe M, Titeux M, Methia N, Breton-Gorius J, Cosman D, Vainchenker W (1994): C-Mpl ligand is a humoral regulator of megakaryocytopoiesis. Nature (London) 369:571-574.