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Prenatally diagnosed 16p11.2 copy number variations by SNP Array: A retrospective case series.

Distal Deletion, Distal Duplication, Proximal Deletion, Proximal Duplication,

All,

This study examines prenatal ultrasound findings in 30 fetuses diagnosed with 16p11.2 copy number variations, finding that vertebral (spine) abnormalities were especially common in proximal deletions, which may help families and doctors better understand what to expect and look for during pregnancy.

Prenatal,