Frequency of thrombocytopenia and large platelets correlates neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome
| Autor: | Jean-Louis Cloez, Véronique Latger-Cannard, Philippe Jonveaux, Thomas Lecompte, François Marcon, Danièle Bensoussan, Pierre Bordigoni, Marie-Josée Grégoire, Bruno Leheup |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Blood Platelets Male medicine.medical_specialty Adolescent Chromosomes Human Pair 22 Velopharyngeal insufficiency Diabetes mellitus Internal medicine medicine Humans Platelet Prospective Studies Child Prospective cohort study Immunodeficiency Cell Size business.industry Infant Newborn Infant Syndrome medicine.disease Thrombocytopenia Surgery Hypoparathyroidism Child Preschool Pediatrics Perinatology and Child Health Speech delay Circulatory system Cardiology Female Chromosome Deletion medicine.symptom business |
| Zdroj: | European Journal of Pediatrics. 163:327-328 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/s00431-004-1426-9 |
| Popis: | We report thrombocytopenia and large platelets in 34 patients with 22q11.2 deletion syndrome. Our report demonstrates the absence of correlation between platelet abnormalities and other phenotypic features such as conotruncal cardiac anomalies or immunodeficiency. The 22q11.2 deletion syndrome includes a wide spectrum of clinical anomalies, among which are dysmorphic facies, velopharyngeal insufficiency with or without an overt cleft, speech delay, hypoparathyroidism, conotruncal cardiac anomalies and immunodeficiency. In this prospective study, we analysed, over a period of 4 years, platelet parameters, cardiac anomalies and immunological features in 34 patients with a 22q11.2 deletion (median age: 5 years, age range: 1 month–24 years, 25F/9M). |
| Databáze: | OpenAIRE |
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