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10 April 2021: Clinical Research

Clinical Application of Chromosomal Microarray Analysis in Pregnant Women with Advanced Maternal Age and Fetuses with Ultrasonographic Soft Markers

Zhu-Ming Hu ABCE , Lei-Lei Li ABD , Han Zhang BF , Hong-Guo Zhang BC , Rui-Zhi Liu AFG , Yang Yu ACF*

DOI: 10.12659/MSM.929074

Med Sci Monit 2021; 27:e929074

Table 3 List of clinically significant CMA findings for group 1.

CaseAge (years)CMA resultCopy number changesSize (Mb)Conc.Outcome
141arr[GRCh37] 1q21.1q21.2(145895746-147830830)×1Del1.94pathogenicLB/BH
237arr[GRCh37] 1q21.1q21.2(146488130-147830830)×3Dup1.34pathogenicLB/BH
336arr[GRCh37] 2q13(110983417-113111856)×1Del2.13likely pathogenicTOP
440arr[hg19]6q26(162724247-162841979)×1Del0.12likely pathogenicLB/BH
539arr[GRCh37] 14q23.3(67256159-67541139)×1Del0.29likely pathogenicLB/BH
641arr[GRCh37] 15q11.2q13.1(22770421-28560664)×3Dup5.79pathogenicTOP
735arr[GRCh37] 16p13.11(15058820-16272403)×3Dup1.21likely pathogenicLB/BH
836arr[GRCh37] 16p13.11(15154356-16309046)×3Dup1.16likely pathogenicLB/BH
936arr[GRCh37] 16p13.11p12.3(15481747-18172468)×3Dup2.69likely pathogenicLB/BH
1035arr[GRCh37] 17p12(14099504-15428902)×3Dup1.33pathogenicLB/BH
1140seq[hg19]21q22.12(36500000-36820000)×1Del0.32likely pathogenicLB/BH
1342seq[hg19]Xp22.31(6580000-8120000)×3Dup1.54likely pathogenicLB/BH
1436arr[GRCh37] Xp22.31(6518528-7831857)×0Del1.31pathogenicTOP
1537arr[GRCh37] Xp22.33(168551-3185614)×1Del3.02pathogenicLB/BH
CMA – chromosomal microarray analysis; Del – deletion; Dup – duplication; TOP – termination of pregnancy; LB – live birth; BH – born healthy.

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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750