2q31.1 microdeletion syndrome: case report and literature review

We describe a preterm neonate with bilateral coloboma of the iris, upper and lower limb malformations including rocker bottom feet, camptodactyly, and clinodactyly together with microcephaly and small for gestational age whom cytogenetic diagnosis using SNP microarray detected an interstitial deleti...

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Detalles Bibliográficos
Autores principales: Puvabanditsin, Surasak, February, Melissa, Shaik, Tazeem, Kashyap, Arun, Bruno, Chantal, Mehta, Rajeev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498842/
https://www.ncbi.nlm.nih.gov/pubmed/26185628
http://dx.doi.org/10.1002/ccr3.260
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author Puvabanditsin, Surasak
February, Melissa
Shaik, Tazeem
Kashyap, Arun
Bruno, Chantal
Mehta, Rajeev
author_facet Puvabanditsin, Surasak
February, Melissa
Shaik, Tazeem
Kashyap, Arun
Bruno, Chantal
Mehta, Rajeev
author_sort Puvabanditsin, Surasak
collection PubMed
description We describe a preterm neonate with bilateral coloboma of the iris, upper and lower limb malformations including rocker bottom feet, camptodactyly, and clinodactyly together with microcephaly and small for gestational age whom cytogenetic diagnosis using SNP microarray detected an interstitial deletion of chromosome 2 between 2q31.1 and 33.1.
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spelling pubmed-44988422015-07-16 2q31.1 microdeletion syndrome: case report and literature review Puvabanditsin, Surasak February, Melissa Shaik, Tazeem Kashyap, Arun Bruno, Chantal Mehta, Rajeev Clin Case Rep Case Reports We describe a preterm neonate with bilateral coloboma of the iris, upper and lower limb malformations including rocker bottom feet, camptodactyly, and clinodactyly together with microcephaly and small for gestational age whom cytogenetic diagnosis using SNP microarray detected an interstitial deletion of chromosome 2 between 2q31.1 and 33.1. John Wiley & Sons, Ltd 2015-06 2015-03-29 /pmc/articles/PMC4498842/ /pubmed/26185628 http://dx.doi.org/10.1002/ccr3.260 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/4.0/ 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
Puvabanditsin, Surasak
February, Melissa
Shaik, Tazeem
Kashyap, Arun
Bruno, Chantal
Mehta, Rajeev
2q31.1 microdeletion syndrome: case report and literature review
title 2q31.1 microdeletion syndrome: case report and literature review
title_full 2q31.1 microdeletion syndrome: case report and literature review
title_fullStr 2q31.1 microdeletion syndrome: case report and literature review
title_full_unstemmed 2q31.1 microdeletion syndrome: case report and literature review
title_short 2q31.1 microdeletion syndrome: case report and literature review
title_sort 2q31.1 microdeletion syndrome: case report and literature review
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498842/
https://www.ncbi.nlm.nih.gov/pubmed/26185628
http://dx.doi.org/10.1002/ccr3.260
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