Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion
نویسندگان
چکیده
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.
منابع مشابه
Evaluation of Nuchal Translucency Measuremen in First Trimester Pregnancy
Background A significant number of pregnancies, particularly in women with previous histories of infertility, are associated with fetal abnormalities. Methods such as the nuchal translucency (NT) measurement enable us to identify more pregnancies with chromosomal abnormalities. MaterialsAndMethods This analytic cross-sectional study was performed in 446 pregnant women at 11-14 weeks gestation, ...
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