Wolf–Hirschhorn syndrome: A case demonstrated by a cytogenetic study

We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome study. Phenotypic signs described in the classical Wolf–Hirschhorn syndrome were found on clinical examination of our patient.

Detalles Bibliográficos
Autores principales: Pokale, Yamini S., Jadhav, Ajinkya M., Kate, Ushang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385166/
https://www.ncbi.nlm.nih.gov/pubmed/22754235
http://dx.doi.org/10.4103/0971-6866.96677
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author Pokale, Yamini S.
Jadhav, Ajinkya M.
Kate, Ushang
author_facet Pokale, Yamini S.
Jadhav, Ajinkya M.
Kate, Ushang
author_sort Pokale, Yamini S.
collection PubMed
description We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome study. Phenotypic signs described in the classical Wolf–Hirschhorn syndrome were found on clinical examination of our patient.
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spelling pubmed-33851662012-07-02 Wolf–Hirschhorn syndrome: A case demonstrated by a cytogenetic study Pokale, Yamini S. Jadhav, Ajinkya M. Kate, Ushang Indian J Hum Genet Case Report We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome study. Phenotypic signs described in the classical Wolf–Hirschhorn syndrome were found on clinical examination of our patient. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3385166/ /pubmed/22754235 http://dx.doi.org/10.4103/0971-6866.96677 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Pokale, Yamini S.
Jadhav, Ajinkya M.
Kate, Ushang
Wolf–Hirschhorn syndrome: A case demonstrated by a cytogenetic study
title Wolf–Hirschhorn syndrome: A case demonstrated by a cytogenetic study
title_full Wolf–Hirschhorn syndrome: A case demonstrated by a cytogenetic study
title_fullStr Wolf–Hirschhorn syndrome: A case demonstrated by a cytogenetic study
title_full_unstemmed Wolf–Hirschhorn syndrome: A case demonstrated by a cytogenetic study
title_short Wolf–Hirschhorn syndrome: A case demonstrated by a cytogenetic study
title_sort wolf–hirschhorn syndrome: a case demonstrated by a cytogenetic study
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385166/
https://www.ncbi.nlm.nih.gov/pubmed/22754235
http://dx.doi.org/10.4103/0971-6866.96677
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AT jadhavajinkyam wolfhirschhornsyndromeacasedemonstratedbyacytogeneticstudy
AT kateushang wolfhirschhornsyndromeacasedemonstratedbyacytogeneticstudy

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