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Related Experiment Videos

A familial cryptic subtelomeric deletion 12p with variable phenotypic effect.

E Baker1, L Hinton, D F Callen

  • 1Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, South Australia 5006, Australia.

Clinical Genetics
|May 10, 2002
PubMed
Summary
This summary is machine-generated.

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A familial 1.65 Mb terminal deletion at 12p13.33 was identified in a mother and son. This cryptic deletion, missed by standard karyotyping, caused mild intellectual disability and behavioral issues.

Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Genetics

Background:

  • Subtelomeric deletions can cause intellectual disability and behavioral problems.
  • Standard karyotyping may not detect cryptic subtelomeric abnormalities.
  • Familial studies are crucial for identifying the inheritance patterns of chromosomal abnormalities.

Observation:

  • A 15-year-old boy presented with moderate mental retardation and severe behavioral problems.
  • His mother exhibited learning difficulties.
  • Both individuals carried a cryptic deletion in 12p13.33, confirmed by fluorescence in situ hybridization (FISH).

Findings:

  • A 1.65 Mb terminal deletion at 12p13.33 was identified in both the proband and his mother.
  • The deleted region encompasses 10 predicted genes.

Related Experiment Videos

  • This represents the first reported cases of a submicroscopic deletion at 12p13.33.

    • Implications:

    • The familial nature of this deletion highlights the importance of family studies in subtelomeric abnormalities.
    • Subtle genetic variations can lead to significant clinical phenotypes.
    • Advanced molecular techniques like FISH are essential for diagnosing cryptic chromosomal aberrations.