In:
Prenatal Diagnosis, Wiley, Vol. 42, No. 9 ( 2022-08), p. 1162-1172
Abstract:
What's already known about this topic? Deletions and duplications account for 65%–80% of pathogenic Duchenne muscular dystrophy (DMD) variants. About two‐thirds of DMD pathogenic variants are inherited from a female carrier. A nationwide carrier screening for DMD was initiated in Israel in 2020. What does this study add? The carrier rate among 12,362 women tested for deletions and duplications in the DMD gene was 1:1374. Screening should be adjusted for methodological limitations and may require extensive genetic counseling and work‐up.
Type of Medium:
Online Resource
ISSN:
0197-3851
,
1097-0223
Language:
English
Publisher:
Wiley
Publication Date:
2022
detail.hit.zdb_id:
82031-3
detail.hit.zdb_id:
1491217-X
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