Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype

We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results. The genotype–phenotype correlation between individual microarray and clinical findings adds to the emerging...

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Autores principales: Marinescu, Ponnila S, Saller, Devereux N, Parks, W Tony, Yatsenko, Svetlana A, Rajkovic, Aleksandar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352360/
https://www.ncbi.nlm.nih.gov/pubmed/25767704
http://dx.doi.org/10.1002/ccr3.162
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author Marinescu, Ponnila S
Saller, Devereux N
Parks, W Tony
Yatsenko, Svetlana A
Rajkovic, Aleksandar
author_facet Marinescu, Ponnila S
Saller, Devereux N
Parks, W Tony
Yatsenko, Svetlana A
Rajkovic, Aleksandar
author_sort Marinescu, Ponnila S
collection PubMed
description We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results. The genotype–phenotype correlation between individual microarray and clinical findings adds to the emerging atlas of chromosomal abnormalities associated with specific prenatal ultrasound abnormalities.
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spelling pubmed-43523602015-03-12 Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype Marinescu, Ponnila S Saller, Devereux N Parks, W Tony Yatsenko, Svetlana A Rajkovic, Aleksandar Clin Case Rep Case Reports We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results. The genotype–phenotype correlation between individual microarray and clinical findings adds to the emerging atlas of chromosomal abnormalities associated with specific prenatal ultrasound abnormalities. BlackWell Publishing Ltd 2015-02 2014-10-15 /pmc/articles/PMC4352360/ /pubmed/25767704 http://dx.doi.org/10.1002/ccr3.162 Text en © 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Marinescu, Ponnila S
Saller, Devereux N
Parks, W Tony
Yatsenko, Svetlana A
Rajkovic, Aleksandar
Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype
title Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype
title_full Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype
title_fullStr Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype
title_full_unstemmed Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype
title_short Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype
title_sort prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array cgh in a fetus with an apparently normal karyotype
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352360/
https://www.ncbi.nlm.nih.gov/pubmed/25767704
http://dx.doi.org/10.1002/ccr3.162
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