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Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities
BACKGROUND: Interstitial microdeletions in 1p are extremely rare, as very few cases have been reported postnatally and only one prenatally, yet. There is a variability of phenotypic findings such as hypotonia, facial dysmorphisms, mild microcephaly, with being most common developmental delay. CASE P...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053025/ https://www.ncbi.nlm.nih.gov/pubmed/27713767 http://dx.doi.org/10.1186/s13039-016-0288-y |
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author | Dagklis, Themistoklis Papageorgiou, Elena Siomou, Elisavet Paspaliaris, Vassilis Zerva, Christina Chatzis, Panagiotis Thomaidis, Loretta Manolakos, Emmanouil Papoulidis, Ioannis |
author_facet | Dagklis, Themistoklis Papageorgiou, Elena Siomou, Elisavet Paspaliaris, Vassilis Zerva, Christina Chatzis, Panagiotis Thomaidis, Loretta Manolakos, Emmanouil Papoulidis, Ioannis |
author_sort | Dagklis, Themistoklis |
collection | PubMed |
description | BACKGROUND: Interstitial microdeletions in 1p are extremely rare, as very few cases have been reported postnatally and only one prenatally, yet. There is a variability of phenotypic findings such as hypotonia, facial dysmorphisms, mild microcephaly, with being most common developmental delay. CASE PRESENTATION: The present case involved a female fetus with an interstitial deletion on 1p, presenting with micrognathia in the 2nd trimester routine ultrasound examination. Array-based comparative genomic hybridization (a-CGH) revealed a 2,7 Mb deletion located on 1p34.3 which could not be detected by standard karyotyping. CONCLUSIONS: This is the first prenatal case of an interstitial deletion in 1p34.3 with facial dysmorphism detected by a-CGH. Due to the use of a-CGH techniques submicroscopic imbalances could be detected, and a refined genotype-phenotype correlation could be achieved. |
format | Online Article Text |
id | pubmed-5053025 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-50530252016-10-06 Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities Dagklis, Themistoklis Papageorgiou, Elena Siomou, Elisavet Paspaliaris, Vassilis Zerva, Christina Chatzis, Panagiotis Thomaidis, Loretta Manolakos, Emmanouil Papoulidis, Ioannis Mol Cytogenet Case Report BACKGROUND: Interstitial microdeletions in 1p are extremely rare, as very few cases have been reported postnatally and only one prenatally, yet. There is a variability of phenotypic findings such as hypotonia, facial dysmorphisms, mild microcephaly, with being most common developmental delay. CASE PRESENTATION: The present case involved a female fetus with an interstitial deletion on 1p, presenting with micrognathia in the 2nd trimester routine ultrasound examination. Array-based comparative genomic hybridization (a-CGH) revealed a 2,7 Mb deletion located on 1p34.3 which could not be detected by standard karyotyping. CONCLUSIONS: This is the first prenatal case of an interstitial deletion in 1p34.3 with facial dysmorphism detected by a-CGH. Due to the use of a-CGH techniques submicroscopic imbalances could be detected, and a refined genotype-phenotype correlation could be achieved. BioMed Central 2016-10-06 /pmc/articles/PMC5053025/ /pubmed/27713767 http://dx.doi.org/10.1186/s13039-016-0288-y Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Dagklis, Themistoklis Papageorgiou, Elena Siomou, Elisavet Paspaliaris, Vassilis Zerva, Christina Chatzis, Panagiotis Thomaidis, Loretta Manolakos, Emmanouil Papoulidis, Ioannis Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities |
title | Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities |
title_full | Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities |
title_fullStr | Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities |
title_full_unstemmed | Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities |
title_short | Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities |
title_sort | prenatal diagnosis of 1p34.3 interstitial microdeletion by acgh in a fetus with jaw bone abnormalities |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053025/ https://www.ncbi.nlm.nih.gov/pubmed/27713767 http://dx.doi.org/10.1186/s13039-016-0288-y |
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