A child with mosaicism for deletion (14)(q11.2q13)

In this case report we describe a child with a de novo deletion in the (q11.2q13) region of chromosome 14. The child presented with dysmorphic features - anophthalmia, microcephaly, and growth retardation. Cytogenetic studies showed mosaicism. The karyotype was 46,XX,del(14)(q11.2;q13) [16] /46,XX [...

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Autores principales: Gamage, Thilini H., Godapitiya, Imaya U.H., Nanayakkara, Shakila, Jayasekara, Rohan W., Dissanayake, Vajira H.W.
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/PMC3385171/
https://www.ncbi.nlm.nih.gov/pubmed/22754240
http://dx.doi.org/10.4103/0971-6866.96684
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author Gamage, Thilini H.
Godapitiya, Imaya U.H.
Nanayakkara, Shakila
Jayasekara, Rohan W.
Dissanayake, Vajira H.W.
author_facet Gamage, Thilini H.
Godapitiya, Imaya U.H.
Nanayakkara, Shakila
Jayasekara, Rohan W.
Dissanayake, Vajira H.W.
author_sort Gamage, Thilini H.
collection PubMed
description In this case report we describe a child with a de novo deletion in the (q11.2q13) region of chromosome 14. The child presented with dysmorphic features - anophthalmia, microcephaly, and growth retardation. Cytogenetic studies showed mosaicism. The karyotype was 46,XX,del(14)(q11.2;q13) [16] /46,XX [9]. We compared the features observed in this child with that of others with the same deletion reported in scientific literature and found that this is the first report of a child mosaic for this deletion. It is also the first time it has been reported in association with anophthalmia.
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spelling pubmed-33851712012-07-02 A child with mosaicism for deletion (14)(q11.2q13) Gamage, Thilini H. Godapitiya, Imaya U.H. Nanayakkara, Shakila Jayasekara, Rohan W. Dissanayake, Vajira H.W. Indian J Hum Genet Case Report In this case report we describe a child with a de novo deletion in the (q11.2q13) region of chromosome 14. The child presented with dysmorphic features - anophthalmia, microcephaly, and growth retardation. Cytogenetic studies showed mosaicism. The karyotype was 46,XX,del(14)(q11.2;q13) [16] /46,XX [9]. We compared the features observed in this child with that of others with the same deletion reported in scientific literature and found that this is the first report of a child mosaic for this deletion. It is also the first time it has been reported in association with anophthalmia. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3385171/ /pubmed/22754240 http://dx.doi.org/10.4103/0971-6866.96684 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
Gamage, Thilini H.
Godapitiya, Imaya U.H.
Nanayakkara, Shakila
Jayasekara, Rohan W.
Dissanayake, Vajira H.W.
A child with mosaicism for deletion (14)(q11.2q13)
title A child with mosaicism for deletion (14)(q11.2q13)
title_full A child with mosaicism for deletion (14)(q11.2q13)
title_fullStr A child with mosaicism for deletion (14)(q11.2q13)
title_full_unstemmed A child with mosaicism for deletion (14)(q11.2q13)
title_short A child with mosaicism for deletion (14)(q11.2q13)
title_sort child with mosaicism for deletion (14)(q11.2q13)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385171/
https://www.ncbi.nlm.nih.gov/pubmed/22754240
http://dx.doi.org/10.4103/0971-6866.96684
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