Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion

BACKGROUND: 14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. CASE PRESENTATION: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplicati...

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Autores principales: Kurtulgan, Hande Küçük, Özer, Leyla, Yıldırım, Malik Ejder, Ünsal, Evrim, Aktuna, Süleyman, Baltacı, Volkan, Akkuş, Nejmiye, Sezgin, İlhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654821/
https://www.ncbi.nlm.nih.gov/pubmed/26594242
http://dx.doi.org/10.1186/s13039-015-0195-7
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author Kurtulgan, Hande Küçük
Özer, Leyla
Yıldırım, Malik Ejder
Ünsal, Evrim
Aktuna, Süleyman
Baltacı, Volkan
Akkuş, Nejmiye
Sezgin, İlhan
author_facet Kurtulgan, Hande Küçük
Özer, Leyla
Yıldırım, Malik Ejder
Ünsal, Evrim
Aktuna, Süleyman
Baltacı, Volkan
Akkuş, Nejmiye
Sezgin, İlhan
author_sort Kurtulgan, Hande Küçük
collection PubMed
description BACKGROUND: 14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. CASE PRESENTATION: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplication and originated from maternal pericentric inversion of chromosome 14. Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypotonia, telecanthus and cardiac malformation. CONCLUSIONS: Her final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p11.2q24)mat,arr14q24.1-qter(64,800,000-108,350,000 bp)x3.
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spelling pubmed-46548212015-11-22 Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion Kurtulgan, Hande Küçük Özer, Leyla Yıldırım, Malik Ejder Ünsal, Evrim Aktuna, Süleyman Baltacı, Volkan Akkuş, Nejmiye Sezgin, İlhan Mol Cytogenet Case Report BACKGROUND: 14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. CASE PRESENTATION: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplication and originated from maternal pericentric inversion of chromosome 14. Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypotonia, telecanthus and cardiac malformation. CONCLUSIONS: Her final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p11.2q24)mat,arr14q24.1-qter(64,800,000-108,350,000 bp)x3. BioMed Central 2015-11-21 /pmc/articles/PMC4654821/ /pubmed/26594242 http://dx.doi.org/10.1186/s13039-015-0195-7 Text en © Kurtulgan et al. 2015 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Kurtulgan, Hande Küçük
Özer, Leyla
Yıldırım, Malik Ejder
Ünsal, Evrim
Aktuna, Süleyman
Baltacı, Volkan
Akkuş, Nejmiye
Sezgin, İlhan
Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion
title Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion
title_full Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion
title_fullStr Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion
title_full_unstemmed Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion
title_short Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion
title_sort recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654821/
https://www.ncbi.nlm.nih.gov/pubmed/26594242
http://dx.doi.org/10.1186/s13039-015-0195-7
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