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Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect
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 phenot...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287247/ https://www.ncbi.nlm.nih.gov/pubmed/22136596 http://dx.doi.org/10.1186/1755-8166-4-27 |
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author | Srebniak, Malgorzata I Boter, Marjan Verboven-Peerden, Carla MA Looye-Bruinsma, Gerda AG Oudesluijs, Gretel Galjaard, Robert-Jan H Van Opstal, Diane |
author_facet | Srebniak, Malgorzata I Boter, Marjan Verboven-Peerden, Carla MA Looye-Bruinsma, Gerda AG Oudesluijs, Gretel Galjaard, Robert-Jan H Van Opstal, Diane |
author_sort | Srebniak, Malgorzata I |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3287247 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-32872472012-02-28 Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect Srebniak, Malgorzata I Boter, Marjan Verboven-Peerden, Carla MA Looye-Bruinsma, Gerda AG Oudesluijs, Gretel Galjaard, Robert-Jan H Van Opstal, Diane Mol Cytogenet Short Report 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. BioMed Central 2011-12-02 /pmc/articles/PMC3287247/ /pubmed/22136596 http://dx.doi.org/10.1186/1755-8166-4-27 Text en Copyright ©2011 Srebniak et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Short Report Srebniak, Malgorzata I Boter, Marjan Verboven-Peerden, Carla MA Looye-Bruinsma, Gerda AG Oudesluijs, Gretel Galjaard, Robert-Jan H Van Opstal, Diane Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect |
title | Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect |
title_full | Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect |
title_fullStr | Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect |
title_full_unstemmed | Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect |
title_short | Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect |
title_sort | prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect |
topic | Short Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287247/ https://www.ncbi.nlm.nih.gov/pubmed/22136596 http://dx.doi.org/10.1186/1755-8166-4-27 |
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