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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Detalles Bibliográficos
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
Descripción
Sumario: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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