Molecular cytogenetic characterization of 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects

Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects, and we discuss the genotype–phenotype correlation. Case report: Here, we describe a fe...

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Autores principales:	Fagui Yue, Meiling Sun, Hongguo Zhang, Yuting Jiang, Leilei Li, Jing He, Ruizhi Liu
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	1q42.3q44 deletion 8q24.3 duplication Chromosomal microarray analysis Ultrasound abnormalities Genotype-phenotype Gynecology and obstetrics RG1-991
Acceso en línea:	https://doaj.org/article/14312683f3f94f468209341292c8a545
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spelling	oai:doaj.org-article:14312683f3f94f468209341292c8a5452021-11-18T04:44:52ZMolecular cytogenetic characterization of 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects1028-455910.1016/j.tjog.2021.09.030https://doaj.org/article/14312683f3f94f468209341292c8a5452021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1028455921002709https://doaj.org/toc/1028-4559Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects, and we discuss the genotype–phenotype correlation. Case report: Here, we describe a fetus with abnormal sonography findings showing a single umbilical artery and ventricular septal defects. Conventional karyotyping initially described the fetus as 46,XX,1q? and molecular cytogenetic analysis (CMA) revealed a 13-Mb deletion and 4.6-Mb duplication of regions 1q42.3q44 and 8q24.3, respectively. The father's karyotype was 46,XY. The mother's karyotype was 46,XX,t(1;8)(q42;q24). Therefore, the karyotype of the fetus was identified as 46,XX,der(1)t(1;8)(q42;q24) mat. After genetic counseling, the couple chose to terminate the pregnancy. We suggest that the ACTN2, RYR2 and PUF60 genes may be responsible for the ultrasound abnormalities observed in the fetus. Conclusion: To the best of our knowledge, this is the first report of a 1q deletion and 8q duplication identified by prenatal detection. The application of karyotype analysis and CMA provides more accurate characterization for unidentified chromosomal anomalies, and benefits appropriate genetic counseling in the clinic.Fagui YueMeiling SunHongguo ZhangYuting JiangLeilei LiJing HeRuizhi LiuElsevierarticle1q42.3q44 deletion8q24.3 duplicationChromosomal microarray analysisUltrasound abnormalitiesGenotype-phenotypeGynecology and obstetricsRG1-991ENTaiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 6, Pp 1126-1133 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	1q42.3q44 deletion 8q24.3 duplication Chromosomal microarray analysis Ultrasound abnormalities Genotype-phenotype Gynecology and obstetrics RG1-991
spellingShingle	1q42.3q44 deletion 8q24.3 duplication Chromosomal microarray analysis Ultrasound abnormalities Genotype-phenotype Gynecology and obstetrics RG1-991 Fagui Yue Meiling Sun Hongguo Zhang Yuting Jiang Leilei Li Jing He Ruizhi Liu Molecular cytogenetic characterization of 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects
description	Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects, and we discuss the genotype–phenotype correlation. Case report: Here, we describe a fetus with abnormal sonography findings showing a single umbilical artery and ventricular septal defects. Conventional karyotyping initially described the fetus as 46,XX,1q? and molecular cytogenetic analysis (CMA) revealed a 13-Mb deletion and 4.6-Mb duplication of regions 1q42.3q44 and 8q24.3, respectively. The father's karyotype was 46,XY. The mother's karyotype was 46,XX,t(1;8)(q42;q24). Therefore, the karyotype of the fetus was identified as 46,XX,der(1)t(1;8)(q42;q24) mat. After genetic counseling, the couple chose to terminate the pregnancy. We suggest that the ACTN2, RYR2 and PUF60 genes may be responsible for the ultrasound abnormalities observed in the fetus. Conclusion: To the best of our knowledge, this is the first report of a 1q deletion and 8q duplication identified by prenatal detection. The application of karyotype analysis and CMA provides more accurate characterization for unidentified chromosomal anomalies, and benefits appropriate genetic counseling in the clinic.
format	article
author	Fagui Yue Meiling Sun Hongguo Zhang Yuting Jiang Leilei Li Jing He Ruizhi Liu
author_facet	Fagui Yue Meiling Sun Hongguo Zhang Yuting Jiang Leilei Li Jing He Ruizhi Liu
author_sort	Fagui Yue
title	Molecular cytogenetic characterization of 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects
title_short	Molecular cytogenetic characterization of 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects
title_full	Molecular cytogenetic characterization of 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects
title_fullStr	Molecular cytogenetic characterization of 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects
title_full_unstemmed	Molecular cytogenetic characterization of 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects
title_sort	molecular cytogenetic characterization of 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/14312683f3f94f468209341292c8a545
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Molecular cytogenetic characterization of 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects

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