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Table 4 Results of genetic diagnosis in 11 Chimeric families

From: Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis

Family number

Proband

Carrier status of mother

Foetus

Pregnancy outcome

DMD513

Exons 48–52 Deletion

No

Patient

Termination

DMD990

c.8194 A > T(p.Lys2732*)

No

Patient

Termination

DMD2235

Exons 8–34 Deletion

No

Carrier

Delivery

DMD2346

Exons 45–52 Deletion

No

Carrier

Delivery

DMD2416

Exons 45–52 Deletion

No

Patient

Termination

DMD2530

Exons 8–9 Duplication

No

Patient

Termination

DMD2559

Exons 48–52 Duplication

No

Carrier

Delivery

DMD2789

Exons 45–53 Deletion

No

Patient

Termination

DMD2906

Exons 10–11 Deletion

No

Carrier

Delivery

DMD2921

Exons 46–50 Deletion

No

Patient

Termination

DMD3001

Exons 49–52 Deletion

No

Patient

Termination