| Utility of microsatellite analysis in evaluation of pregnancies with placental mesenchymal dysplasia. | |
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MedLine Citation:
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PMID: 17994614 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To demonstrate a role for microsatellite analysis in the evaluation of prenatal cases with possible placental mesenchymal dysplasia (PMD). METHODS: We present a case report in which several molecular analyses of amniocytes and products of conception were used in combination with cytogenetic and ultrasound studies to evaluate a pregnancy with a clinical suspicion of PMD. A combination of Southern blotting analysis, methylation-sensitive polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) was utilized to evaluate methylation patterns in the Beckwith-Wiedemann syndrome (BWS) and Prader-Willi/Angelman syndrome (PW/AS) critical regions. A series of microsatellite markers were used to evaluate the possibility of an androgenetic cell line. RESULTS: Methylation studies performed for the BWS and PW/AS critical regions were abnormal and consistent with a molecular diagnosis of BWS and Angelman syndrome. Further studies of amniocytes using microsatellite markers identified androgenetic and biparental cell lines in approximately a 10:1 ratio, respectively. CONCLUSIONS: Prenatal ultrasonography, karyotyping and molecular genetic evaluation for BWS alone were not sufficient to identify the underlying etiology of PMD in this case. The androgenetic cell line was only identified after microsatellite analysis. |
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Authors:
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Marie N Schuetzle; Timothy S Uphoff; Bonnie A Hatten; D Brian Dawson |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Prenatal diagnosis Volume: 27 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 2007 Dec |
Date Detail:
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Created Date: 2007-12-06 Completed Date: 2008-03-25 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
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Languages: eng Pagination: 1238-44 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2007 John Wiley & Sons, Ltd. |
Affiliation:
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Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA. schuetzle.marie@mayo.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abortion, Therapeutic Adult Beckwith-Wiedemann Syndrome / diagnosis, genetics* Female Humans Microsatellite Repeats Placenta Diseases / genetics*, ultrasonography Pregnancy Prenatal Diagnosis / methods* Ultrasonography, Prenatal Uniparental Disomy / diagnosis*, genetics |
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