Prenatal diagnosis of a fetus with mosaic ring chromosome 13: Case report and review of the literature

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Tytuł:: Prenatal diagnosis of a fetus with mosaic ring chromosome 13: Case report and review of the literature
Autorzy:: Xiao-Nan Hu
Lei-Lei Li
Qing-Yang Shi
Zhu-Ming Hu
Hong-Guo Zhang
Yu-Ting Jiang
Rui-Zhi Liu
Temat:: Prenatal diagnosis
Ring chromosome
Chromosomal microarray analysis
Nuchal translucency
Genetic counseling
Gynecology and obstetrics
RG1-991
Źródło:: Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 3, Pp 554-558 (2021)
Wydawca:: Elsevier, 2021.
Rok publikacji:: 2021
Kolekcja:: LCC:Gynecology and obstetrics
Typ dokumentu:: article
Opis pliku:: electronic resource
Język:: English
ISSN:: 1028-4559
Relacje:: http://www.sciencedirect.com/science/article/pii/S1028455921000826; https://doaj.org/toc/1028-4559
DOI:: 10.1016/j.tjog.2021.03.031
Dostęp URL:: https://doaj.org/article/abb66f96bbd14d18a53616300af578fb Link otwiera się w nowym oknie
Numer akcesji:: edsdoj.bb66f96bbd14d18a53616300af578fb
: Czasopismo naukowe

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Objective: To diagnose the ring chromosome 13 (r(13)) in a fetus, and analyze the genotype–phenotype correlation. Case report: A 26-year-old woman who was second pregnancy, underwent amniocentesis at 18 weeks of gestation because of the increased nuchal translucency (NT). Prenatal ultrasound showed the NT thickness was 3.5 mm at 12+1 weeks of gestation and nuchal fold (NF) was 6.1 mm at 18 weeks of gestation, and amniotic fluid karyotype analysis revealed mosaic r(13). CMA detected a 16.293 Mb duplication at 13q21.32q31.1 and 31.303 Mb deletion at 13q31.1q34. Conclusion: R(13) is a very rare chromosomal abnormality. Cytogenetic examination combined with CMA can provide accurate diagnosis and effective information for genetic counseling.

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