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Sichuan Da Xue Xue Bao Yi Xue Ban. 2017 May;48(3):460-463.

[Clinical Application of Chromosomal Microarray Analysis in Karyotyping with Uncertain Genomic Rearrangement].

[Article in Chinese]
Hu T1,2, Zhang Z1,2, Wang JM1,2, Liu HQ1,2, Liu ZY1,2, Wang H1,2, Liu SL1,2.

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Department of Obstetric and Gynecologic, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, China.



To apply chromosomal microarray analysis (CMA) in the diagnosis of karyotyping with uncertain genomic rearrangement.


We retrospectively reviewed 48 samples (34 samples of amniotic fluid, 14 samples of peripheral blood) of karyotype analyses with uncertain genomic rearrangement in patients admitted to our department from September 2014 to April 2016. The CMA results were compared with those of karyotyping.


The 48 samples consisted of 13 samples with marker chromosomes, 19 samples with derivative chromosomes, and 16 samples with balanced translocation. Sixteen cases (33.33%) were detected with abnormalities by CMA. In the 32 samples with marker chromosomes or derivative chromosomes, 16 cases were detected with deletions or duplications (>5 Mb) by CMA, including 1 case 21-trisomy, 2 cases XYY syndrome and 3 cases microdeletion/ microduplication syndromes (22q11 duplication syndrome, Wolf-Hirschhorn syndrome and 15q26 overgrowth syndrome). In the 16 balanced translocation cases, all revealed negative results in CMA.


CMA can confirm the karyotyping with uncertain genomic rearrangement and clarify its clinical significance.


Chromosomal microarry analysis ; Chromosome karyotyping ; Copy number variation

[Indexed for MEDLINE]

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