| Prenatal diagnosis of mosaicism for a del(22)(q13). | |
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MedLine Citation:
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PMID: 10701858 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A case of prenatally detected mosaicism for a del(22)(q13) is reported. CVS was performed because of abnormal fetal ultrasound findings: cystic 'tumour' in the fetal neck and the upper thoracic aperture. Karyotypes from chorionic villi were suspicious of an aberration concerning the long arm of one chromosome 22. FISH analysis demonstrated mosaicism for a distal 22q deletion in fetal fibroblasts. The deletion was postnatally confirmed by FISH with a chromosome-specific 22q probe. The 'tumour' on autopsy turned out to be cystic thymic tissue. Apart from this, no other obvious fetal anomalies were found. |
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Authors:
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M Riegel; A Baumer; J Wisser; J Acherman; A Schinzel |
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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: 20 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 2000 Jan |
Date Detail:
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Created Date: 2000-03-27 Completed Date: 2000-03-27 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: 76-9 Citation Subset: IM |
Affiliation:
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Institute of Medical Genetics, University of Zurich, Switzerland. riegel@medgen.unizh.ch |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Chorionic Villi Sampling Chromosomes, Human, Pair 22* Cytogenetic Analysis Female Gene Deletion* Humans In Situ Hybridization, Fluorescence Karyotyping Mosaicism* Pregnancy Prenatal Diagnosis* Ultrasonography, Prenatal |
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