Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report

A 28-year-old woman underwent amniocentesis at 18 weeks’ gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female...

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Vydáno v:Balkan J Med Genet
Hlavní autoři: Karaman, A, Karaman, B, Çetinkaya, A, Karaman, S, Demirci, O
Médium: Artigo
Jazyk:Inglês
Vydáno: Sciendo 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7474219/
https://ncbi.nlm.nih.gov/pubmed/32953417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/bjmg-2020-0014
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