| Tetrasomy 9p Mosaicism Associated with a Normal Phenotype in Two Cases. | |
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MedLine Citation:
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PMID: 22487875 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Tetrasomy 9p is a rare chromosomal syndrome and about 30% of known cases exhibit mosaicism. Approximately 50 of the reported cases with tetrasomy 9p mosaicism show a characteristic facial appearance, growth failure, and developmental delay. However, 3 patients with mosaicism for isochromosome 9p and a normal phenotype have also been reported. We report 2 additional cases of clinically normal young females with tetrasomy 9p mosaicism, one of whom also exhibited X chromosome aneuploidy mosaicism leading to an overall of 6 different cell lines. STR analysis performed on this complex mosaic case indicated that the extra isochromosome was of maternal origin while the X chromosome aneuploidy was of paternal origin, indicating a postzygotic event. |
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Authors:
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I Papoulidis; M Kontodiou; M Tzimina; I Saitis; A B Hamid; E Klein; N Kosyakova; U Kordaß; J Kunz; E Siomou; P Nicolaides; S Orru; L Thomaidis; T Liehr; M B Petersen; E Manolakos |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-4-05 |
Journal Detail:
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Title: Cytogenetic and genome research Volume: - ISSN: 1424-859X ISO Abbreviation: - Publication Date: 2012 Apr |
Date Detail:
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Created Date: 2012-4-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101142708 Medline TA: Cytogenet Genome Res Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012 S. Karger AG, Basel. |
Affiliation:
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Eurogenetica S.A., Thessaloniki and Athens, Greece. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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