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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Autores principales: Karaman, A, Karaman, B, Çetinkaya, A, Karaman, S, Demirci, O
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474219/
https://www.ncbi.nlm.nih.gov/pubmed/32953417
http://dx.doi.org/10.2478/bjmg-2020-0014
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author Karaman, A
Karaman, B
Çetinkaya, A
Karaman, S
Demirci, O
author_facet Karaman, A
Karaman, B
Çetinkaya, A
Karaman, S
Demirci, O
author_sort Karaman, A
collection PubMed
description 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 infant was delivered at 38 weeks’ gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.
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spelling pubmed-74742192020-09-17 Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report Karaman, A Karaman, B Çetinkaya, A Karaman, S Demirci, O Balkan J Med Genet 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 infant was delivered at 38 weeks’ gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting. Sciendo 2020-08-26 /pmc/articles/PMC7474219/ /pubmed/32953417 http://dx.doi.org/10.2478/bjmg-2020-0014 Text en © 2020 Karaman A, Karaman B, Çetinkaya A, Karaman S, Demirci O, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/3.0 This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
spellingShingle Case Report
Karaman, A
Karaman, B
Çetinkaya, A
Karaman, S
Demirci, O
Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report
title Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report
title_full Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report
title_fullStr Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report
title_full_unstemmed Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report
title_short Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report
title_sort prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474219/
https://www.ncbi.nlm.nih.gov/pubmed/32953417
http://dx.doi.org/10.2478/bjmg-2020-0014
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