Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects

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Title:	Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects
Authors:	陳持平;Chen, Chih-Ping;Chen, Chen-Yu;Chen, Chen-Yu;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;Wu, Fang-Tzu;Wu, Fang-Tzu;Chen, Li-Feng;Chen, Li-Feng;Wang, Wayseen;Wang, Wayseen
Contributors:	醫學檢驗暨生物技術學系
Keywords:	15q13.2-q13.3 microduplicationdel(18)(q22.2)KLF13NFATC1Ventricular septal defect
Date:	2019-09
Issue Date:	2020-08-27 06:09:34 (UTC+0)
Publisher:	亞洲大學
Abstract:	Objective We present detection of de novo del(18)(q22.2) and a familial 15q13.2-q13.3 microduplication in a fetus with congenital heart defects (CHD). Case report A 27-year-old, primigravid woman was referred for genetic counseling because of fetal CHD. Prenatal ultrasound at 17 weeks of gestation revealed pericardial effusion, cardiomegaly and a large ventricular septal defect. The pregnancy was subsequently terminated at 18 weeks of gestation, and a 192-g female fetus was delivered with facial dysmorphism. Cytogenetic analysis of the umbilical cord revealed a karyotype of 46,XX,del(18)(q22.2). The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) of the placental tissue revealed a 2.08-Mb 15q13.2-q13.3 microduplication encompassing KLF13 and CHRNA7, and a 10.74-Mb 18q22.2-q23 deletion encompassing NFATC1. The phenotypically normal father carried the same 2.08-Mb 15q13.2-q13.3 microduplication. Polymorphic DNA marker analysis confirmed a paternal origin of the distal 18q deletion. Conclusion Prenatal diagnosis of CHD should include a complete genetic study of the embryonic tissues, and the acquired information is useful for genetic counseling.
Relation:	TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
Appears in Collections:	[醫學檢驗暨生物技術學系] 期刊論文

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