In:
Prenatal Diagnosis, Wiley, Vol. 43, No. 6 ( 2023-06), p. 734-745
Abstract:
What is already known on this topic? Deletion of the 7q11.23 region causes the Williams Beuren syndrome (WBS). The reciprocal duplication is responsible for a distinctive although less severe neurodevelopmental disorder. Diagnosis of WBS is usually suspected postnatally in infants but its prenatal presentation remains challenging. What does this study add? Largest series of fetuses with a 7q11.23 deletion or a 7q11.23 duplication. Antenatal ultrasound findings of prenatal 7q11.23 copy number variations.
Type of Medium:
Online Resource
ISSN:
0197-3851
,
1097-0223
Language:
English
Publisher:
Wiley
Publication Date:
2023
detail.hit.zdb_id:
1491217-X
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