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Macrothrombocytopenia as diagnosis predictor of 22q11 deletion syndrome among patients with congenital heart defects
2015; Wiley; Volume: 167; Issue: 6 Linguagem: Inglês
10.1002/ajmg.a.36531
ISSN1552-4833
AutoresPatrícia Trevisan, S A Barbosa, Graziela Sperotto, Caroline Costi, Reinaldo L. de Omena Filho, Alessandra P. da Silva, Marileila Varella‐Garcia, Marilu Fiegenbaum, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen,
Tópico(s)Coronary Artery Anomalies
ResumoAmerican Journal of Medical Genetics Part AVolume 167, Issue 6 p. 1406-1408 Research Letter Macrothrombocytopenia as diagnosis predictor of 22q11 deletion syndrome among patients with congenital heart defects Patrícia Trevisan, Patrícia Trevisan Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, BrazilSearch for more papers by this authorSílvia Barbosa, Sílvia Barbosa Cytogenetics Laboratory, UFCSPA, Porto Alegre, RS, BrazilSearch for more papers by this authorGraziela Sperotto, Graziela Sperotto Graduation in Medicine, Universidade Luterana do Brasil (ULBRA), Porto Alegre, RS, BrazilSearch for more papers by this authorCaroline Costi, Caroline Costi Graduation in Medicine, Universidade Luterana do Brasil (ULBRA), Porto Alegre, RS, BrazilSearch for more papers by this authorReinaldo L. de Omena Filho, Reinaldo L. de Omena Filho Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, BrazilSearch for more papers by this authorAlessandra P. da Silva, Alessandra P. da Silva Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, BrazilSearch for more papers by this authorMarileila Varella-Garcia, Marileila Varella-Garcia School of Medicine, Division of Medical Oncology, University of Colorado Denver, Denver, ColoradoSearch for more papers by this authorMarilu Fiegenbaum, Marilu Fiegenbaum Human Genetics, UFCSPA, Porto Alegre, RS, BrazilSearch for more papers by this authorRafael F. M. Rosa, Rafael F. M. Rosa Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil Cytogenetics Laboratory, UFCSPA, Porto Alegre, RS, Brazil Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil Clinical Genetics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, BrazilSearch for more papers by this authorPaulo R. G. Zen, Corresponding Author Paulo R. G. Zen Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil Cytogenetics Laboratory, UFCSPA, Porto Alegre, RS, Brazil Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil Correspondence to: Paulo Ricardo Gazzola Zen, Clinical Genetics, UFCSPA/CHSCPA, Rua Sarmento Leite, 245/403, CEP: 90050-170, Porto Alegre, RS, Brazil. E-mail: [email protected]Search for more papers by this author Patrícia Trevisan, Patrícia Trevisan Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, BrazilSearch for more papers by this authorSílvia Barbosa, Sílvia Barbosa Cytogenetics Laboratory, UFCSPA, Porto Alegre, RS, BrazilSearch for more papers by this authorGraziela Sperotto, Graziela Sperotto Graduation in Medicine, Universidade Luterana do Brasil (ULBRA), Porto Alegre, RS, BrazilSearch for more papers by this authorCaroline Costi, Caroline Costi Graduation in Medicine, Universidade Luterana do Brasil (ULBRA), Porto Alegre, RS, BrazilSearch for more papers by this authorReinaldo L. de Omena Filho, Reinaldo L. de Omena Filho Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, BrazilSearch for more papers by this authorAlessandra P. da Silva, Alessandra P. da Silva Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, BrazilSearch for more papers by this authorMarileila Varella-Garcia, Marileila Varella-Garcia School of Medicine, Division of Medical Oncology, University of Colorado Denver, Denver, ColoradoSearch for more papers by this authorMarilu Fiegenbaum, Marilu Fiegenbaum Human Genetics, UFCSPA, Porto Alegre, RS, BrazilSearch for more papers by this authorRafael F. M. Rosa, Rafael F. M. Rosa Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil Cytogenetics Laboratory, UFCSPA, Porto Alegre, RS, Brazil Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil Clinical Genetics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, BrazilSearch for more papers by this authorPaulo R. G. Zen, Corresponding Author Paulo R. G. Zen Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil Cytogenetics Laboratory, UFCSPA, Porto Alegre, RS, Brazil Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil Correspondence to: Paulo Ricardo Gazzola Zen, Clinical Genetics, UFCSPA/CHSCPA, Rua Sarmento Leite, 245/403, CEP: 90050-170, Porto Alegre, RS, Brazil. E-mail: [email protected]Search for more papers by this author First published: 21 April 2015 https://doi.org/10.1002/ajmg.a.36531Citations: 2Read 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 Agergaard P, Olesen C, Østergaard JR, Christiansen M, Sørensen KM. 2012. The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations A population-based study. Am J Med Genet A 158A: 498–508. Akar NA, Adekile AD. 2007. Chromosome 22q11.2 deletion presenting with immune-mediated cytopenias, macrothrombocytopenia and platelet dysfunction. Med Princ Pract 16: 318–320. Butts SC, Tatum SA 3rd, Mortelliti AJ, Shprintzen RJ. 2005. Velo-cardio-facial syndrome: The pediatric otolaryngologist's perspective. Curr Opin Otolaryngol Head Neck Surg 13: 371–375. Kato T, Kosaka K, Kimura M, Imamura S, Yamada O, Iwai K, Ando M, Joh-o K, Kuroe K, Ohtake A, Takao A, Momma K, Matsuoka R. 2003. Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta. Genet Med 5: 113–119. Latger-Cannard V, Bensoussan D, Grégoire MJ, Marcon F, Cloez JL, Leheup B, Jonveaux P, Lecompte T, Bordigoni P. 2004. Frequency of thrombocytopenia and large platelets correlates neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome. Eur J Pediatr 163: 327–328. Lawrence S, McDonald-McGinn DM, Zackai E, Sullivan KE. 2003. 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Rosa RFM, Zen PRG, Graziadio C, Paskulin GA. 2011a. 22q11.2 deletion syndrome and congenital heart defects. Rev Paul Pediatr 29: 251–260. Rosa RF, Rosa RC, Dos Santos PP, Zen PR, Paskulin GA. 2011b. Hematological abnormalities and 22q11.2 deletion syndrome. Rev Bras Hematol Hemoter 33: 151–154. Tobias ES, Morrison N, Whiteford ML, Tolmie JL. 1999. Towards earlier diagnosis of 22q11 deletions. Arch Dis Child 81: 513–514. Van Geet C, Devriendt K, Eyskens B, Vermylen J, Hoylaerts MF. 1998. Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets. Pediatr Res 44: 607–611. Citing Literature Volume167, Issue6June 2015Pages 1406-1408 ReferencesRelatedInformation
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