Distal monosomy 3p

What is Distal monosomy 3p?

Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.

Other condition names

  • 3p- syndrome
  • Distal 3p deletion
  • Monosomy 3pter
  • Telomeric monosomy 3p


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Antenatal
  • Neonatal
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