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Table 1 Detection result summary of the three biopsied blastocysts

From: Preimplantation genetic testing for Aicardi–Goutières syndrome induced by novel compound heterozygous mutations of TREX1: an unaffected live birth

Embryo number

Grading#

Sanger sequencing

SNP haplotyping

CNV

E1

3BB

normal

Wild type haplotype

Mixed aneuploidy*

E2

3BB

c.294dupA

Paternal haplotype carrier

46,XN

E3

3CB

c.294dupA

Paternal haplotype carrier

46,XN,4p(pter → p12, ~ 49 Mb, × 1,mos, ~ 50%), 4q(q12 → q35.2, ~ 138 Mb, × 1,mos, ~ 50%)

  1. #The embryo quality was assessed following the Gardner grading system [22]
  2. *Embryo with both aneuploid and mosaic chromosomes
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Molecular Cytogenetics

ISSN: 1755-8166