Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?

Valeria Cavalleri, Laura R. Bettini, Chiara Barboni, Anna Cereda, Milena Mariani, Marco Spinelli, Cristina Gervasini, Silvia Russo, Andrea Biondi, Momcilo Jankovic, Angelo Selicorni

Research output: Contribution to journalArticle

Abstract

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder caused by mutations in the cohesion complex and its regulators. The syndrome is characterized by multiple organ system abnormalities, pre- and post-natal growth retardation and typical facial features. Thrombocytopenia is a reduction in platelet count to 9L. It can be caused by congenital or acquired decreased production, increased destruction, or sequestration of platelets. In recent years, several papers reported thrombocytopenia and immune thrombocytopenia in patients affected by CdLS. In 2011, Lambert et al. estimated the risk of idiopathic thrombocytopenia purpura in CdLS patients to be 31-633 times greater than in the general population. We describe the incidence of thrombocytopenia in 127 Italian CdLS patients, identifying patients with transient or persistent thrombocytopenia, but a lower incidence of true idiopathic thrombocytopenic purpura (ITP).

Original languageEnglish
Pages (from-to)130-134
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number1
DOIs
Publication statusPublished - Jan 1 2016

Fingerprint

De Lange Syndrome
Thrombocytopenia
Idiopathic Thrombocytopenic Purpura
Inborn Genetic Diseases
Purpura
Incidence
Platelet Count
Blood Platelets
Mutation
Growth
Population

Keywords

  • CdLS
  • ITP
  • Thrombocytopenia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Cavalleri, V., Bettini, L. R., Barboni, C., Cereda, A., Mariani, M., Spinelli, M., ... Selicorni, A. (2016). Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma? American Journal of Medical Genetics, Part A, 170(1), 130-134. https://doi.org/10.1002/ajmg.a.37390

Thrombocytopenia and Cornelia de Lange syndrome : Still an enigma? / Cavalleri, Valeria; Bettini, Laura R.; Barboni, Chiara; Cereda, Anna; Mariani, Milena; Spinelli, Marco; Gervasini, Cristina; Russo, Silvia; Biondi, Andrea; Jankovic, Momcilo; Selicorni, Angelo.

In: American Journal of Medical Genetics, Part A, Vol. 170, No. 1, 01.01.2016, p. 130-134.

Research output: Contribution to journalArticle

Cavalleri, V, Bettini, LR, Barboni, C, Cereda, A, Mariani, M, Spinelli, M, Gervasini, C, Russo, S, Biondi, A, Jankovic, M & Selicorni, A 2016, 'Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?', American Journal of Medical Genetics, Part A, vol. 170, no. 1, pp. 130-134. https://doi.org/10.1002/ajmg.a.37390
Cavalleri V, Bettini LR, Barboni C, Cereda A, Mariani M, Spinelli M et al. Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma? American Journal of Medical Genetics, Part A. 2016 Jan 1;170(1):130-134. https://doi.org/10.1002/ajmg.a.37390
Cavalleri, Valeria ; Bettini, Laura R. ; Barboni, Chiara ; Cereda, Anna ; Mariani, Milena ; Spinelli, Marco ; Gervasini, Cristina ; Russo, Silvia ; Biondi, Andrea ; Jankovic, Momcilo ; Selicorni, Angelo. / Thrombocytopenia and Cornelia de Lange syndrome : Still an enigma?. In: American Journal of Medical Genetics, Part A. 2016 ; Vol. 170, No. 1. pp. 130-134.
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