| Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion. | |
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MedLine Citation:
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PMID: 20429643 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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An isolated pericardial effusion was observed during a routine prenatal ultrasound in a fetus of 30 and 3/7 weeks gestation. Amniocentesis was performed and revealed a trisomy 21. After prenatal counseling, the parents opted for termination of the pregnancy at 32 weeks. Postmortem examination confirmed the presence of a pericardial effusion, without structural cardiac anomalies, and showed the development of ascites and subcutaneous edema. Histological examination showed an infiltrate of megakaryoblasts and irregular, dysplastic megakaryocytes confined to the epicardium, the pericardial lymph nodes, and the pancreas, consistent with a myeloid proliferation related to Down syndrome. Sequencing of exons 2 and 3 of the GATA1 gene from the umbilical cord blood and from megakaryoblast infiltrate showed no mutation. A high incidence of chromosomal abnormalities, in particular trisomy 21, has been described in fetuses with pericardial effusion. However, myeloid proliferation related to Down syndrome without GATA1 mutations is extremely rare. To our knowledge, only one such case has been reported to date. We present here a 2nd case, which further supports the hypothesis that hyperproliferation of megakaryocytes in a subset of Down syndrome patients may be initiated by events other than GATA1 mutations. |
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Authors:
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Anne-Laure Rougemont; Periklis Makrythanasis; Vildana Finci; Marie-Hélène Billieux; Manuella Epiney; Thomas A McKee; Dean Nizetic; Siv Fokstuen |
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Publication Detail:
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Type: Journal Article Date: 2010-04-29 |
Journal Detail:
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Title: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Volume: 13 ISSN: 1093-5266 ISO Abbreviation: Pediatr. Dev. Pathol. Publication Date: 2010 Sep-Oct |
Date Detail:
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Created Date: 2010-12-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9809673 Medline TA: Pediatr Dev Pathol Country: United States |
Other Details:
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Languages: eng Pagination: 423-6 Citation Subset: IM |
Affiliation:
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Division of Clinical Pathology, Geneva University Hospitals, 1211 Geneva, Switzerland. anne-laure.rougemont@hcuge.ch |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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