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Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 34(2): 240-243, 2017 Apr 10.
Article in Chinese | MEDLINE | ID: mdl-28397228

ABSTRACT

OBJECTIVE: To use combined G-banding and array-comparative genomic hybridization (aCGH) for the prenatal diagnosis of a fetus with 5q35 deletion syndrome. METHODS: Chromosomal karotypes of the fetus and parents were analyzed with G-banding analysis. aCGH was performed to detect minor chromosomal structural abnormalities. RESULTS: The karyotype of the fetus was ascertained as 46, XY, t(5;10)(q35;p13), and the karyotypes of the parents were normal. aCGH has identified a de novo 1.68 Mb deletion at 5q35.2q35.3 and a 1.44 Mb duplication at 10p14p13. CONCLUSION: aCGH has a higher resolution and greater accuracy for mapping chromosomal aberrations and is a useful supplement for G banding karyptyping analysis.


Subject(s)
Cri-du-Chat Syndrome/genetics , Fetal Diseases/genetics , Trisomy/genetics , Adult , Chromosome Banding , Chromosome Deletion , Chromosomes, Human, Pair 5/genetics , Comparative Genomic Hybridization , Cri-du-Chat Syndrome/diagnosis , Cri-du-Chat Syndrome/embryology , Female , Fetal Diseases/diagnosis , Humans , Karyotyping , Male , Prenatal Diagnosis , Trisomy/diagnosis
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