| Autor: |
Srebniak Malgorzata I, Boter Marjan, Verboven-Peerden Carla MA, Looye-Bruinsma Gerda AG, Oudesluijs Gretel, Galjaard Robert-Jan H, Van Opstal Diane |
| Jazyk: |
angličtina |
| Rok vydání: |
2011 |
| Předmět: |
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| Zdroj: |
Molecular Cytogenetics, Vol 4, Iss 1, p 27 (2011) |
| Druh dokumentu: |
article |
| ISSN: |
1755-8166 |
| DOI: |
10.1186/1755-8166-4-27 |
| Popis: |
Abstract Background Recent development of MLPA (Multiplex-Ligation-dependent Probe Amplification, MRC-Holland) and microarray technology allows detection of a wide range of new submicroscopic abnormalities. Publishing new cases and case reviews associated with both clinical abnormalities and a normal phenotype is of great value. Findings/results We report on two phenotypically normal foetuses carrying a maternally-inherited interstitial submicroscopic abnormality of chromosome 18p11.32. Both abnormalities were found with the aneuploidy MLPA kit P095 during rapid aneuploidy detection, which was offered along with conventional karyotyping. Foetus 1 and its mother have a 1,7 Mb deletion and foetus 2 and its mother have a 1,9 Mb duplication. In both cases normal babies were born. We used the HumanCytoSNP-12 array of Illumina to visualize the CNVs and map the breakpoints. Conclusions We suggest that a CNV at 18p11.32 (528,050-2,337,486) may represent a new benign euchromatic variant. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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