21Feb 2026
Prenatal Features and Genomic Insights in NONO-Related X-Linked Intellectual Disability

Prenatal Features and Genomic Insights in NONO-Related X-Linked Intellectual Disability

This study characterizes prenatal ultrasound features across trimesters in 23 cases of NONO-related X-linked intellectual disability (MRXS34). Brain anomalies, such as corpus callosum agenesis, and cardiac defects including LVNC are common in the second trimester. Genome sequencing enabled detection of novel and recurrent variants, highlighting the importance of genetic testing for prenatal diagnosis.

  • #gynaecology - ivf
  • #neurology

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