| Severe TMD/AMKL with GATA1 mutation in a stillborn fetus with Down syndrome. | |
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MedLine Citation:
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PMID: 17597708 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: A 34-year-old woman was referred for evaluation of a recent stillborn male fetus, gestational age 27 6/7 weeks, found to have congenital myeloid leukemia at autopsy. Autopsy findings included high weight for gestational age, hepatomegaly, and extensive intravascular leukemic infiltrates in the placenta, heart, liver, thymus, lung, kidneys, and brain. Genetic consultation and examination of photographs of the fetus revealed dysmorphic features. INVESTIGATIONS: Immunoperoxidase staining of placental tissue, fluorescence in situ hybridization of paraffin-embedded sections of the placenta using probes for t(12;21)(p13;q22), t(8;21)(q22;q22) and t/del(11q23), cytogenetic analysis of fetal tissue (tendon), sequence analysis of GATA1 in placental leukemic cells, and parental chromosome studies. DIAGNOSIS: Down syndrome with in utero onset of GATA1 mutation-positive severe transient myeloproliferative disorder/acute megakaryoblastic leukemia. MANAGEMENT: Genetic counseling for the recurrence risk of Down syndrome on the basis of maternal age. |
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Authors:
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Brandie Heald; Joanne M Hilden; Kevin Zbuk; Alice Norton; Paresh Vyas; Karl S Theil; Charis Eng |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Nature clinical practice. Oncology Volume: 4 ISSN: 1743-4262 ISO Abbreviation: - Publication Date: 2007 Jul |
Date Detail:
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Created Date: 2007-06-28 Completed Date: 2007-07-17 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 101226509 Medline TA: Nat Clin Pract Oncol Country: England |
Other Details:
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Languages: eng Pagination: 433-8 Citation Subset: IM |
Affiliation:
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Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH 44195, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Autopsy Down Syndrome / genetics* Female GATA1 Transcription Factor / genetics* Humans Infant, Newborn Leukemia, Megakaryoblastic, Acute / genetics* Mutation / genetics Myeloproliferative Disorders / genetics* Pregnancy Stillbirth* |
| Chemical | |
Reg. No./Substance:
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0/GATA1 Transcription Factor; 0/GATA1 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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