Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion

Chromosome 13 is one of the acrocentric chromosomes of the human karyotype. Acrocentric chromosomes are the most variable chromosomes in the human karyotype and these variations appear to have no clinical consequences. To the best of our knowledge, this is the first reported case of a first trimeste...

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Autores principales: Uzun, I, Has, R, Alici, E, Ozdemir, M, Inan, C, Erzincan, S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026287/
https://www.ncbi.nlm.nih.gov/pubmed/27785415
http://dx.doi.org/10.1515/bjmg-2016-0014
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author Uzun, I
Has, R
Alici, E
Ozdemir, M
Inan, C
Erzincan, S
author_facet Uzun, I
Has, R
Alici, E
Ozdemir, M
Inan, C
Erzincan, S
author_sort Uzun, I
collection PubMed
description Chromosome 13 is one of the acrocentric chromosomes of the human karyotype. Acrocentric chromosomes are the most variable chromosomes in the human karyotype and these variations appear to have no clinical consequences. To the best of our knowledge, this is the first reported case of a first trimester presentation of a 13 short arm satellite deletion with markedly increased nuchal translucency (NT). In this case, the 13p short arm satellite deletion was associated with increased NT in two pregnancies from the same couple.
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spelling pubmed-50262872016-10-26 Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion Uzun, I Has, R Alici, E Ozdemir, M Inan, C Erzincan, S Balkan J Med Genet Case Report Chromosome 13 is one of the acrocentric chromosomes of the human karyotype. Acrocentric chromosomes are the most variable chromosomes in the human karyotype and these variations appear to have no clinical consequences. To the best of our knowledge, this is the first reported case of a first trimester presentation of a 13 short arm satellite deletion with markedly increased nuchal translucency (NT). In this case, the 13p short arm satellite deletion was associated with increased NT in two pregnancies from the same couple. De Gruyter 2016-08-02 /pmc/articles/PMC5026287/ /pubmed/27785415 http://dx.doi.org/10.1515/bjmg-2016-0014 Text en © 2016 Walter de Gruyter GmbH, Berlin/Boston
spellingShingle Case Report
Uzun, I
Has, R
Alici, E
Ozdemir, M
Inan, C
Erzincan, S
Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion
title Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion
title_full Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion
title_fullStr Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion
title_full_unstemmed Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion
title_short Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion
title_sort recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026287/
https://www.ncbi.nlm.nih.gov/pubmed/27785415
http://dx.doi.org/10.1515/bjmg-2016-0014
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