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Related Experiment Videos

Familial inverted duplication 7p

G B Schaefer1, K Novak, D Steele

  • 1Hattie B. Munroe Center for Human Genetics, Meyer Rehabilitation Institute, University of Nebraska Medical School, Omaha, USA.

American Journal of Medical Genetics
|March 27, 1995
PubMed
Summary
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A rare chromosome 7 duplication, specifically an inverted duplication of the 7p12.2-p13 region, was identified in a family with developmental delays. This genetic finding is novel, with no similar cases previously reported in scientific literature.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Genetics

Background:

  • Genetic evaluations are crucial for diagnosing developmental disorders.
  • Chromosomal abnormalities can lead to significant health and developmental issues.
  • Family history is essential in understanding genetic conditions.

Observation:

  • A 10-month-old female presented with developmental delay and failure to thrive.
  • Physical examination revealed mild dysmorphic features including a beaked nose and clinodactyly.
  • Cytogenetic analysis identified an inverted duplication of chromosome 7p12.2-p13.

Findings:

  • The identified chromosomal abnormality, dup(7)(p13p12.2), was also present in the affected mother, brother, and grandmother.
  • Cognitive impairment was noted in all affected family members.

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  • A comprehensive literature review found no previously reported cases with this specific chromosomal duplication.

    • Implications:

    • This case highlights a potentially new genetic syndrome associated with this specific chromosome 7 duplication.
    • Further research is warranted to understand the phenotypic spectrum and inheritance patterns.
    • Accurate genetic diagnosis is vital for familial counseling and management of developmental disorders.