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Table 2 The results of mutation anlaysis and comprehensive aneuploidy screening

From: Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency

 

F7 gene

CFTR gene

PGS

Comment

Embryo ID

STR (bp, Maternal /Paternal)

Mutations

Interpretation

STR (bp, Maternal /Paternal)

Mutations

Interpretation

 

D13S261

c.1126 A > T

c.1238 G > C/A

D7S633

IVS17

D7S480

c.3209 G > A

c.3659 C > T

1

173/171

T/A

G/A

Affected

171/167

134/129

156/150

G/G

T/C

Carrier

ND

 

2

173/171

T/A

G/A

Affected

165/167

136/134

156/148

A/G

C/C

Carrier

ND

 

3

171/171

A/A

G/A

Carrier

171/167

134/134

156/148

G/G

C/C

Normal

47,XY, + 16

Trisomy 16

4

171/171

AF

AF

AF

165/167

136/129

156/150

A/G

T/C

Affected

ND

 

5

171/171

A/A

G/C

Carrier

165/167

136/129

156/150

A/G

T/C

Affected

ND

 

6

173/171

T/A

G/A

Affected

161/167

134/134

156/148

G/G

C/C

Normal

ND

 

7

171/171

A/A

G/C

Carrier

165/167

136/134

156/148

A/G

C/C

Carrier

46,XY

Transferred

8

171/171

A/A

G/C

Carrier

165/167

136/134

156/148

A/G

C/C

Carrier

47,XY, + 13

Trisomy 13

9

173/171

T/A

G/A

Affected

165/167

136/134

156/148

A/G

C/C

Carrier

ND

 

10

173/171

T/A

G/C

Affected

165/167

136/134

156/148

A/G

C/C

Carrier

ND

 

11

ADO /171

ADO /A

ADO/A

Uncertain

171/167

134/134

156/148

G/G

C/C

Normal

ND

 
  1. AF Amplification failed, ND No detection, ADO Allele drop-out