Literature DB >> 11251994

Bernard-Soulier syndrome associated with 22q11.2 microdeletion.

M Nakagawa1, M Okuno, N Okamoto, H Fujino, H Kato.   

Abstract

We describe a Japanese girl with Bernard-Soulier syndrome and 22q11.2 microdeletion. She had viral infections and recurrent thrombocytopenia and hemorrhagic diathesis after cardiac surgery. As congenital heart defects and abnormal immunity are the most common clinical manifestations associated with 22q11.2 deletion, patients with this association may have a greater risk of developing a severe bleeding disorder. Copyright 2001 Wiley-Liss. Inc.

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Year:  2001        PMID： 11251994     DOI： 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1176>3.0.co;2-t

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

Review 1.  Genetic abnormalities of Bernard-Soulier syndrome.

Authors:  Shinji Kunishima; Tadashi Kamiya; Hidehiko Saito
Journal:  Int J Hematol       Date:  2002-11       Impact factor: 2.490

Review 2.  CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.

Authors:  Benjamin J Landis; David S Cooper; Robert B Hinton
Journal:  Cardiol Young       Date:  2015-09-08       Impact factor: 1.093

3.  Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.

Authors:  N M J Zwifelhofer; R S Bercovitz; L A Weik; A Moroi; S LaRose; P J Newman; D K Newman
Journal:  J Thromb Haemost       Date:  2019-01-22       Impact factor: 5.824

4.  Hematological abnormalities and 22q11.2 deletion syndrome.

Authors:  Rafael Fabiano Machado Rosa; Rosana Cardoso Manique Rosa; Pedro Paulo Albino Dos Santos; Paulo Ricardo Gazzola Zen; Giorgio Adriano Paskulin
Journal:  Rev Bras Hematol Hemoter       Date:  2011

5.  22q and two: 22q11.2 deletion syndrome and coexisting conditions.

Authors:  Jennifer L Cohen; Terrence B Crowley; Daniel E McGinn; Carey McDougall; Marta Unolt; Michele P Lambert; Beverly S Emanuel; Elaine H Zackai; Donna M McDonald-McGinn
Journal:  Am J Med Genet A       Date:  2018-09-23       Impact factor: 2.802

6.  Genetic classification and confirmation of inherited platelet disorders: current status in Korea.

Authors:  Ye Jee Shim
Journal:  Clin Exp Pediatr       Date:  2020-02-06

7.  Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

Authors:  Alex R Paciorkowski; Kim Keppler-Noreuil; Luther Robinson; Christopher Sullivan; Samin Sajan; Susan L Christian; Polina Bukshpun; Stacy B Gabriel; Joseph G Gleeson; Elliott H Sherr; William B Dobyns
Journal:  Am J Med Genet A       Date:  2013-05-23       Impact factor: 2.802
  7 in total

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