Distal trisomy 18q

What is Distal trisomy 18q?

Distal trisomy 18q is a rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.

Other condition names

  • Distal duplication 18q
  • Telomeric duplication 18q
  • Trisomy 18qter

Age of Onset

  • Antenatal
  • Neonatal
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