Prenatal prevalence and postnatal manifestations of 16p11.2 deletions: A new insights into neurodevelopmental disorders based on clinical investigations combined with multi-omics analysis.

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This study shows that 16p11.2 deletions often arise spontaneously before birth, can sometimes be seen on prenatal ultrasound (especially spine differences), and most commonly lead after birth to language and motor delays—highlighting both the wide range of outcomes and the importance of ongoing developmental monitoring and early support for families affected by 16p11.2 syndromes.