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Related Experiment Videos

Familial supernumerary marker chromosome evolution through three generations

S G Adhvaryu1, T Peters-Brown, E Livingston

  • 1Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA.

Prenatal Diagnosis
|March 27, 1998
PubMed
Summary
This summary is machine-generated.

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A rare ring chromosome 15 (r(15)) was found during prenatal diagnosis. This supernumerary marker chromosome (SMC) showed unusual structural changes and transmission patterns within the family.

Area of Science:

  • Cytogenetics
  • Human Genetics
  • Molecular Biology

Background:

  • Prenatal diagnosis identified a mosaic chromosome complement (46,XY/47,XY,+r(15)).
  • Family studies were initiated to investigate the origin and transmission of the abnormal chromosome complement.

Observation:

  • The mother and one child had a bisatellited supernumerary marker chromosome (SMC) in all lymphocytes.
  • The maternal grandfather exhibited a bisatellited SMC in 2% of his lymphocytes.
  • Genetic probes confirmed both the bisatellited SMC and the ring SMC originated from chromosome 15.

Findings:

  • The bisatellited 15 likely arose from a somatic mutation in the grandfather.
  • It was transmitted to the daughter and grandson without mosaicism (germline transmission).

Related Experiment Videos

  • The marker evolved into a ring SMC in the proband, indicating structural changes.

    • Implications:

    • This case highlights the dynamic nature of supernumerary marker chromosomes (SMCs).
    • It demonstrates unusual transmission and structural evolution of chromosome 15 abnormalities.
    • Understanding SMC origins and behavior is crucial for genetic counseling and diagnosis.