| Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20 mosaicism. | |
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MedLine Citation:
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PMID: 2424648 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The clinical significance of trisomy 20 mosaicism in amniotic fluid cultures has remained unclear so far. We report data on a child with multiple congenital anomalies born after a diagnosis of true trisomy 20 mosaicism in 65% of amniotic fluid cells. The child had generalized dysmorphic features, including facial dysmorphy resembling those of a child with Williams syndrome. The boy also had hypotonia and language delay. Although most of the published cases do not mention any abnormalities in children born after prenatal diagnosis of trisomy 20 mosaicism, the distinct cranio-facial features and the similarities to previous reports of partial or complete chromosome 20 mosaicism raises the possibility that a recognizable pattern of malformation might be associated with the prenatally diagnosable condition in some cases. |
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Authors:
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W Holzgreve; M Golabi; J Bradley |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 29 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1986 Apr |
Date Detail:
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Created Date: 1986-07-25 Completed Date: 1986-07-25 Revised Date: 2004-11-18 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
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Languages: eng Pagination: 342-4 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Amniocentesis Amniotic Fluid / cytology Child, Preschool Chromosomes, Human, 19-20* Developmental Disabilities / genetics Facial Bones / abnormalities Female Humans Male Maternal Age Mosaicism* Pregnancy Pregnancy, High-Risk Prenatal Diagnosis Trisomy* |
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