Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6555338 | Legal Medicine | 2018 | 12 Pages |
Abstract
A maternity testing case is reported, in which the child showed tri-allelic patterns in two short tandem repeat (STR) loci. The genotypes of Penta D of the mother and the child were 9,13 and 9,10,13, respectively. Those of D21S11 were 32.2,35 and 29,35, respectively, but intensity ratio of alleles 29 and 35 of the child was 1:2. These results suggested the copy number variations (CNVs) or trisomy of chromosome 21. By further examination using STR-based chromosome aneuploidy detection kit, three alleles were detected in D21S1411, LFG21 and Penta D, and 2 alleles with intensity ratio of 1:2 were observed in D21S2502, D21S1435, D21S11 and D21S1246. Karyotype and whole-genome SNP array analyses showed that the child had a free trisomy 21. In addition, partially homologous non-sister chromatid crossover occurred at the region 19181770-39499178 on the long arm of chromosome 21.
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Physical Sciences and Engineering
Chemistry
Analytical Chemistry
Authors
Huiyong Jiao, He Ren, Yaran Yang, Bin Ni, Haiyan Zhou, Wei Chen, Yunwang Cao, Chuguang Chen, Yanmei Huang, Jiangwei Yan,