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

I Uzun; R Has; E Alici; M Ozdemir; C Inan; S Erzincan

doi:10.1515/bjmg-2016-0014

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

Balkan Journal of Medical Genetics

Volume 19 (2016): Issue 1 (June 2016)

By: I Uzun, R Has, E Alici, M Ozdemir, C Inan and S Erzincan

Open Access

|Aug 2016

Abstract

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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Articles in this issue

DOI: https://doi.org/10.1515/bjmg-2016-0014 | Journal eISSN: 2199-5761 | Journal ISSN: 1311-0160

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Language: English

Page range: 103 - 106

Published on: Aug 2, 2016

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

Chromosome 13,

Nuchal translucency (NT),

Pregnancy

Related subjects:

Medicine,

Basic medical science,

Basic medical science, other

© 2016 I Uzun, R Has, E Alici, M Ozdemir, C Inan, S Erzincan, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 19 (2016): Issue 1 (June 2016)