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Annals of Hematology
Published in: Annals of Hematology 12/2006

01-12-2006 | Letter to the Editor

Fluorescence in situ hybridization using the subtelomeric 11q probe as a diagnostic tool for congenital thrombocytopenia

Authors: G. Göhring, C. Hanke, C. Kratz, U. Kontny, D. Steinemann, C. M. Niemeyer, B. Schlegelberger

Published in: Annals of Hematology | Issue 12/2006

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Excerpt

Dear Editor, …
Literature
1.
Germeshausen M, Ballmaier M, Welte K (2006) MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. Human Mutat 27(3):296CrossRef
2.
Penny LA, Dell’Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns JP, Grace E, Graham JM Jr, Kousseff B, Mattina T (1995) Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 56(3):676–683PubMed
3.
Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C (2004) The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet 129(1):51–61CrossRef
4.
Tunnacliffe A, Jones C, Le Paslier D, Todd R, Cherif D, Birdsall M, Devenish L, Yousry C, Cotter FE, James MR (1999) Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q. Genome Res 9(1):44–52PubMed
5.
Gangarossa S, Mattina T, Romano V, Milana G, Mollica F, Schiliro G (1996) Micromegakaryocytes in a patient with partial deletion of the long arm of chromosome 11 [del(11)(q24.2qter)] and chronic thrombocytopenic purpura. Am J Med Genet 62(2):120–123PubMedCrossRef
6.
Gadzicki D, Baumer A, Wey E, Happel CM, Rudolph C, Tönnies H, Neitzel H, Steinemann D, Welte K, Klein C, Schlegelberger B (2005) Jacobsen syndrome and Beckwith–Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). Ann Hum Genet (in press). DOI 10.​1111/​j.​1469-1809.​2006.​00271.​x
Metadata
Title
Fluorescence in situ hybridization using the subtelomeric 11q probe as a diagnostic tool for congenital thrombocytopenia
Authors
G. Göhring
C. Hanke
C. Kratz
U. Kontny
D. Steinemann
C. M. Niemeyer
B. Schlegelberger
Publication date
01-12-2006
Publisher
Springer-Verlag
Published in
Annals of Hematology / Issue 12/2006
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-006-0177-2

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