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Related Experiment Videos

Duplication (12p) syndrome--a family

B J O'Sullivan1, A Murphy, M Asghar

  • 1Childrens Hospital, Dublin.

Irish Medical Journal
|May 1, 1995
PubMed
Summary

Duplication (12p) Syndrome is a rare genetic disorder. It can cause developmental delays, distinct facial features, and birth defects in affected individuals.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Duplication (12p) Syndrome is a rare chromosomal abnormality.
  • Characterized by the presence of extra genetic material on the short arm of chromosome 12.

Observation:

  • The syndrome presents with a spectrum of clinical manifestations.
  • Key features include developmental delay, dysmorphic facial features, and congenital malformations.

Findings:

  • This report details cases of Duplication (12p) Syndrome.
  • Highlights the variability in presentation and severity.

Implications:

  • Understanding Duplication (12p) Syndrome is crucial for early diagnosis and intervention.
  • Further research can elucidate genotype-phenotype correlations and improve patient management.