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Terminal 4q Deletion Syndrome

Terminal deletion of the long arm of chromosome 4, (4q) is a rare event. It is characterized by spectral phenotypic manifestations, depending upon the site and quantity of chromatin lost. The chromosomal loss which span 4 (q31-q35) segment often manifests as craniofacial anomalies, mental retardatio...

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Autores principales: Kuldeep, C M, Khare, A K, Garg, Anubhav, Mittal, Asit, Gupta, Lalit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371530/
https://www.ncbi.nlm.nih.gov/pubmed/22707778
http://dx.doi.org/10.4103/0019-5154.96203
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author Kuldeep, C M
Khare, A K
Garg, Anubhav
Mittal, Asit
Gupta, Lalit
author_facet Kuldeep, C M
Khare, A K
Garg, Anubhav
Mittal, Asit
Gupta, Lalit
author_sort Kuldeep, C M
collection PubMed
description Terminal deletion of the long arm of chromosome 4, (4q) is a rare event. It is characterized by spectral phenotypic manifestations, depending upon the site and quantity of chromatin lost. The chromosomal loss which span 4 (q31-q35) segment often manifests as craniofacial anomalies, mental retardation with ocular, cardiac, genitourinary defects and pelvic/limb dysmorphism. These abnormalities are usually unilateral. We report a female child (46, XX), aged 11 months, born to nonconsanguineous parents, bearing chromosomal deletion of 4 (q31.2-35.2) segment, which has manifested as craniofacial hypoplasia of left side of face, ipsilateral ptosis, erythroderma and bilateral thumb anomalies.
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spelling pubmed-33715302012-06-15 Terminal 4q Deletion Syndrome Kuldeep, C M Khare, A K Garg, Anubhav Mittal, Asit Gupta, Lalit Indian J Dermatol Case Report Terminal deletion of the long arm of chromosome 4, (4q) is a rare event. It is characterized by spectral phenotypic manifestations, depending upon the site and quantity of chromatin lost. The chromosomal loss which span 4 (q31-q35) segment often manifests as craniofacial anomalies, mental retardation with ocular, cardiac, genitourinary defects and pelvic/limb dysmorphism. These abnormalities are usually unilateral. We report a female child (46, XX), aged 11 months, born to nonconsanguineous parents, bearing chromosomal deletion of 4 (q31.2-35.2) segment, which has manifested as craniofacial hypoplasia of left side of face, ipsilateral ptosis, erythroderma and bilateral thumb anomalies. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3371530/ /pubmed/22707778 http://dx.doi.org/10.4103/0019-5154.96203 Text en Copyright: © Indian Journal of Dermatology 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
Kuldeep, C M
Khare, A K
Garg, Anubhav
Mittal, Asit
Gupta, Lalit
Terminal 4q Deletion Syndrome
title Terminal 4q Deletion Syndrome
title_full Terminal 4q Deletion Syndrome
title_fullStr Terminal 4q Deletion Syndrome
title_full_unstemmed Terminal 4q Deletion Syndrome
title_short Terminal 4q Deletion Syndrome
title_sort terminal 4q deletion syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371530/
https://www.ncbi.nlm.nih.gov/pubmed/22707778
http://dx.doi.org/10.4103/0019-5154.96203
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