Frequency of Thrombocytopenia and Large Platelets Correlates Neither with Conotruncal Cardiac Anomalies nor Immunological Features in the Chromosome 22q11.2 Deletion Syndrome

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 2004 Sep 7

PMID 15346916

Citations 7

Authors

Veronique Latger-Cannard

Daniele Bensoussan

Marie-Josee Gregoire

Francois Marcon

Jean-Louis Cloez

Bruno Leheup

Philippe Jonveaux

Thomas Lecompte

Pierre Bordigoni

Affiliations

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Citing Articles

Recurrent Evans Syndrome in a Patient With 22q11.2 Deletion Syndrome: An Uncommon Hematological Presentation.

Oliveras-Cordero H, Rivera-Jimenez E Cureus. 2020; 12(11):e11510.

PMID: 33354454 PMC: 7744232. DOI: 10.7759/cureus.11510.

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

Zwifelhofer N, Bercovitz R, Weik L, Moroi A, LaRose S, Newman P J Thromb Haemost. 2018; 17(2):295-305.

PMID: 30549403 PMC: 6410711. DOI: 10.1111/jth.14357.

Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.

Shi H, Wang Z Medicine (Baltimore). 2018; 97(8):e9936.

PMID: 29465581 PMC: 5841983. DOI: 10.1097/MD.0000000000009936.

Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome.

Pachtman S, Deng K, Nanda D Case Rep Obstet Gynecol. 2016; 2016:2920375.

PMID: 27366335 PMC: 4912994. DOI: 10.1155/2016/2920375.

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

Landis B, Cooper D, Hinton R Cardiol Young. 2015; 26(1):30-52.

PMID: 26345374 PMC: 5125077. DOI: 10.1017/S1047951115001389.

References

Jawad A, McDonald-McGinn D, Zackai E, Sullivan K . Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr. 2001; 139(5):715-23. DOI: 10.1067/mpd.2001.118534. View

Budarf M, Konkle B, Ludlow L, Michaud D, Li M, Yamashiro D . Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet. 1995; 4(4):763-6. DOI: 10.1093/hmg/4.4.763. View

Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R . Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet. 1997; 61(3):620-9. PMC: 1715959. DOI: 10.1086/515508. View

Ryan A, Goodship J, Wilson D, Philip N, Levy A, Seidel H . Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997; 34(10):798-804. PMC: 1051084. DOI: 10.1136/jmg.34.10.798. View

Sullivan K, Jawad A, Randall P, Driscoll D, Emanuel B, McDonald-McGinn D . Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clin Immunol Immunopathol. 1998; 86(2):141-6. DOI: 10.1006/clin.1997.4463. View