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Tetrasomy 9p Mosaicism Associated with a Normal Phenotype in Two Cases
- 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.
| Author: | 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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| URN: | urn:nbn:de:gbv:9-opus-31471 |
| DOI: | https://doi.org/10.1159/000337520 |
| ISSN: | 1424-8581 |
| ISSN: | 1424-859X |
| Pubmed Id: | https://pubmed.ncbi.nlm.nih.gov/22487875 |
| Parent Title (English): | Cytogenetic and Genome Research |
| Publisher: | S. Karger AG |
| Place of publication: | Basel, Switzerland |
| Document Type: | Article |
| Language: | English |
| Date of first Publication: | 2012/04/05 |
| Release Date: | 2020/09/29 |
| Tag: | Mosaicism; Normal phenotype; Tetrasomy 9p |
| GND Keyword: | - |
| Volume: | 136 |
| Issue: | 4 |
| First Page: | 237 |
| Last Page: | 241 |
| Faculties: | Universitätsmedizin / Institut für Humangenetik |
| Licence (German): |  Urheberrechtlich geschützt |