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Related Experiment Videos

Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features.

E Smeets1, L Vandenbossche, J P Fryns

  • 1Center for Human Genetics, University of Leuven, Belgium.

Genetic Counseling (Geneva, Switzerland)
|May 3, 2001
PubMed
Summary

Distal 3p duplication, unlike most autosomal abnormalities, often lacks major dysmorphic signs. This genetic condition can lead to developmental delays and speech issues, as seen in two patients with partial trisomy 3p.

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Area of Science:

  • Genetics
  • Molecular Cytogenetics

Background:

  • Autosomal duplications/deficiencies typically present with recognizable dysmorphic syndromes.
  • Distal 3p duplication represents an exception, often not associated with major dysmorphic features.

Observation:

  • Two unrelated patients with distal 3p duplication were analyzed for clinical and molecular cytogenetic findings.
  • Patient 1: A female infant diagnosed at 5 months with psychomotor retardation, slight dysmorphism, hydronephrosis, and delayed speech development. Her condition resulted from an inverted duplication 3p22-->3pter.
  • Patient 2: An 80-year-old female diagnosed with mental retardation and poor speech development, but without evident dysmorphism. Her partial 3p trisomy was an unbalanced product of a 3p/17p translocation.

Findings:

  • Partial trisomy 3p can occur without significant dysmorphic signs.

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  • Molecular cytogenetics revealed distinct mechanisms for distal 3p duplication: inverted duplication and translocation.
  • Clinical presentation includes psychomotor retardation, speech delay, and potential hydronephrosis.

    • Implications:

    • Distal 3p duplication should be considered in cases of developmental delay and speech impairment, even without major dysmorphic features.
    • Understanding the cytogenetic basis is crucial for accurate diagnosis and genetic counseling.
    • Further research may elucidate the specific genes on 3p responsible for these neurodevelopmental outcomes.