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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...

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Autores principales: Dagklis, Themistoklis, Papageorgiou, Elena, Siomou, Elisavet, Paspaliaris, Vassilis, Zerva, Christina, Chatzis, Panagiotis, Thomaidis, Loretta, Manolakos, Emmanouil, Papoulidis, Ioannis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
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.
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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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