| Prenatal diagnosis of trisomy 21 and X/XX sex chromosome mosaicism. | |
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MedLine Citation:
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PMID: 2931678 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Double aneuploidy involving Down syndrome and Turner syndrome is a rare chromosomal abnormality presumed to occur with a frequency of about 1 in 2 million births. Twenty-one cases of this combined anomaly have been reported and two infants were born with this anomaly after a mistake in prenatal diagnosis. We report the first prenatal diagnosis of Down syndrome combined with Turner mosaicism and suggest that this polysyndrome may be more common than previously estimated. We, therefore, wish to alert cytogenetic laboratories performing prenatal diagnoses of the potential risks of misdiagnosis of this polysyndrome if banding is not performed and if a sufficient number of mitotic cells are not analysed. |
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Authors:
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M M McCorquodale; T Cummins; J Furlong |
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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: Prenatal diagnosis Volume: 5 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 1985 Jul-Aug |
Date Detail:
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Created Date: 1985-11-21 Completed Date: 1985-11-21 Revised Date: 2006-11-15 |
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: 295-8 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amniocentesis Aneuploidy Chromosome Aberrations / diagnosis* Chromosome Disorders Down Syndrome / complications, diagnosis* Female Humans Male Pregnancy Prenatal Diagnosis* Turner Syndrome / complications, diagnosis* |
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