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Table 2 Genetic information of biopsied blastocysts

From: ViLR: a novel virtual long read method for breakpoint identification and direct SNP haplotyping in de novo PGT-SR carriers without a proband

Pedigree No.

Embryo

No.

Embryo

morphology

Haplotype result

Embryonic CNV result

Embryo selection

Cytogenetic result of amniotic fluid

PSJ22007

E1

4BB

Carrier

del(mosaic)(20)(p13p11.23)(67%);

del(mosaic)(X)(q21.2q28)(34%)

  

E2

4BC

Normal

+ 4

  

E3

4BC

Normal

46,XN

√

Normal

PSJ22019

E1

4BB

Unbalanced

dup(1)(q42.3q44); del(7)(q11.23q36.3); del(mosaic)(11)(q13.4q25)(47%)

  

E2

4BB

Carrier

-(mosaic)(20)(44%)

  

E3

4BC

Unbalanced

dup(1)(q42.3q44); del(7)(q11.23q36.3)

  

PSJ22015

E1

4BB

Normal

del(mosaic)(9)(q21.11q34.3)(32%)

  

PSJ23002

E1

4BB

Unbalanced

dup(6)(p25.3p12.3)

  

E2

4BB

Normal

46,XN*

√

No pregnancy

E3

4BB

Unknown

Failed quality control

  

E4

4BB

Normal

+(mosaic)(4)(34%); +(mosaic)(16)(58%)

  

E5

4BC

Normal

46,XN*

  

E6

4BC

Unbalanced

-X; del(5)(q11.1q35.3); dup(6)(p25.3p12.3)

  

PSJ23008

E1

4BB

Normal

-15

  

E2

4BB

Normal

46,XN

√

Normal

E3

4BB

Unbalanced

dup(8)(p23.3p23.2); del(17)(q25.1q25.3)

  

E4

4BC

Unbalanced

dup(8)(p23.3p23.2); del(17)(q25.1q25.3);

del(mosaic)(14)(q11.2q32.32)(30%)

  

E5

5BC

Normal

46,XN

  

E6

4BC

Normal

46,XN

  

PSJ23011

E1

4AB

Normal

dup(5)(q31.3q35.3); del(16)(p13.3p11.2)

  

E2

4AB

Normal

+(mosaic)(18)(42%); +(mosaic)(22)(41%);

+(mosaic)(X)(36%)

  

E3

4BB

Normal

46,XN

√

Normal

E4

4BB

Carrier

+ 11

  

E5

4BB

Normal

46,XN

  

E6

4BB

Carrier

46,XN

  

E7

4BB

Unknown

46,XN

  

E8

4BB

Normal

+(mosaic)(6)(45%); +(mosaic)(19)(51%)

  

E9

4BB

Carrier

46,XN

  

E10

4BC

Normal

del(3)(p26.3p12.3)

  

E11

4BC

Carrier

46,XN

  

E12

4BC

Normal

46,XN

  

PSJ23012

E1

4BB

Carrier

-16

  

E2

4BB

Unbalanced

-17; del(1)(q25.2q44); del(18)(p11.32q21.32)

  

E3

4BC

Carrier

46,XN

√

Carrier

E4

4BC

Normal

-(mosaic)(18)(64%)

  

E5

4BC

Unbalanced

dup(1)(p36.33q25.2); del(18)(p11.32q21.32)

  

PSJ23019

E1

4BB

Carrier

46,XN

  

E2

4BB

Normal

46,XN

√

Abortion

PSJ24002

E1

4BB

Carrier

46,XN

√

 

E2

4BB

Carrier

46,XN

  

E3

4BC

Normal

dup(mosaic)(9)(p24.3p21.2)(48%)

  
  1. *Aneuploidy of the short arm of chr13 could not be ruled out