Application of array comparative genomic hybridization in prenatal diagnosis of a case with 5q35 deletion syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To use combined G-banding and array-comparative genomic hybridization (aCGH) for the prenatal diagnosis of a fetus with 5q35 deletion syndrome.</p><p><b>METHODS</b>Chromosomal karotypes of the fetus and parents were analyzed with G-banding analysis. aCGH was performed to detect minor chromosomal structural abnormalities.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>aCGH has a higher resolution and greater accuracy for mapping chromosomal aberrations and is a useful supplement for G banding karyptyping analysis.</p>