Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome

KEY CLINICAL MESSAGE: A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential requirement for multiple genetic methods to...

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Autores principales: Baris, Hagit N, Chan, Wai-Man, Andrews, Caroline, Behar, Doron M, Donovan, Diana J, Morton, Cynthia C, Ranells, Judith, Pal, Tuya, Ligon, Azra H, Engle, Elizabeth C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885256/
https://www.ncbi.nlm.nih.gov/pubmed/24416505
http://dx.doi.org/10.1002/ccr3.11
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author Baris, Hagit N
Chan, Wai-Man
Andrews, Caroline
Behar, Doron M
Donovan, Diana J
Morton, Cynthia C
Ranells, Judith
Pal, Tuya
Ligon, Azra H
Engle, Elizabeth C
author_facet Baris, Hagit N
Chan, Wai-Man
Andrews, Caroline
Behar, Doron M
Donovan, Diana J
Morton, Cynthia C
Ranells, Judith
Pal, Tuya
Ligon, Azra H
Engle, Elizabeth C
author_sort Baris, Hagit N
collection PubMed
description KEY CLINICAL MESSAGE: A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential requirement for multiple genetic methods to gain insight into genotype–phenotype correlation, and ultimately into molecular mechanisms that underlie human disease.
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spelling pubmed-38852562014-10-01 Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome Baris, Hagit N Chan, Wai-Man Andrews, Caroline Behar, Doron M Donovan, Diana J Morton, Cynthia C Ranells, Judith Pal, Tuya Ligon, Azra H Engle, Elizabeth C Clin Case Rep Case Reports KEY CLINICAL MESSAGE: A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential requirement for multiple genetic methods to gain insight into genotype–phenotype correlation, and ultimately into molecular mechanisms that underlie human disease. Blackwell Publishing Ltd 2013-10 2013-09-30 /pmc/articles/PMC3885256/ /pubmed/24416505 http://dx.doi.org/10.1002/ccr3.11 Text en © 2013 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
Baris, Hagit N
Chan, Wai-Man
Andrews, Caroline
Behar, Doron M
Donovan, Diana J
Morton, Cynthia C
Ranells, Judith
Pal, Tuya
Ligon, Azra H
Engle, Elizabeth C
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome
title Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome
title_full Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome
title_fullStr Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome
title_full_unstemmed Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome
title_short Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome
title_sort complex cytogenetic rearrangements at the durs1 locus in syndromic duane retraction syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885256/
https://www.ncbi.nlm.nih.gov/pubmed/24416505
http://dx.doi.org/10.1002/ccr3.11
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