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[Application of array comparative genomic hybridization in prenatal diagnosis of a case with 5q35 deletion syndrome]
Zhanqi Feng1, Heping Hu, Changqing Mao
1Department of Urology, the First People's Hospital of Zhengzhou, Zhengzhou,Henan 450004 China. fengzhanqi448590@sina.com; liuhongyanqhhy@126.com.
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.