| Amniocentesis can be useful during the third trimester of pregnancy for antenatal diagnosis of Pallister-Killian syndrome: a case report. | |
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MedLine Citation:
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PMID: 21995162 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Pallister-Killian syndrome (PKS) is an extremely rare genetic disease characterized cytogenetically by tetrasomy 12p mosaicism. We recently encountered a case of maternal hydramnios associated with congenital diaphragm hernia according to the prenatal diagnosis. Prenatal diagnosis revealed a non-mosaic 47, XY, i(12)(p10) karyotype at amniocentesis of G-band and M-FISH analysis. We performed chromosomal analysis in both interphase and metaphase cells from a cord blood lymphocyte specimen. Mosaic tetrasomy of chromosome 12p was supported by G-banding or FISH analysis. When fetal observations are performed in detail using 2D/3D US, PKS may be diagnosed. In addition, it is effective to perform amniocentesis during the third trimester of pregnancy. |
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Authors:
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M Murakami; T Iwasa; Y Takahashi; M Morine |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical and experimental obstetrics & gynecology Volume: 38 ISSN: 0390-6663 ISO Abbreviation: Clin Exp Obstet Gynecol Publication Date: 2011 |
Date Detail:
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Created Date: 2011-10-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7802110 Medline TA: Clin Exp Obstet Gynecol Country: Italy |
Other Details:
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Languages: eng Pagination: 269-71 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynecology, Kagawa National Children's Hospital, Kagawa, Japan. rohi3791@yahoo.co.jp |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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