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Partial trisomy

Partial Trisomy 11q is when a part of the long arm of chromosome 11 is present three times instead of two. This extra genetic material can cause various symptoms, depending on which part of 11q is duplicated.

Common features include:

  • Growth delays: Before and after birth.
  • Intellectual disability: Mild to moderate.
  • Distinctive facial features: Small head, low-set ears, short nose, and a cleft or highly arched palate.
  • Craniofacial abnormalities: Widely spaced eyes, downward-slanting eyelids, and facial asymmetry.
  • Physical abnormalities: Short stature, issues with bones (like short or fused fingers), and genital abnormalities (like a small penis or undescended testicles).
  • Neurodevelopmental issues: Seizures, pain insensitivity, hearing loss, and language difficulties.
  • Neuropsychiatric disorders: Autistic features and hearing voices.

The severity and combination of symptoms can vary a lot from person to person. Doctors usually diagnose it through chromosomal analysis.