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Related Experiment Videos

Marker chromosome 21 identified by microdissection and FISH

Y Sun1, J Rubinstein, S Soukup

  • 1Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA.

American Journal of Medical Genetics
|March 27, 1995
PubMed
Summary

A child with developmental delay and autistic behaviors had mosaicism for an extra marker chromosome 21 (mos 46,XX/47,XX,+mar(21) de novo). This marker, confirmed via FISH, originated from chromosome 21.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Cytogenetics

Background:

  • Mosaicism involving extra marker chromosomes can present with complex phenotypes.
  • Accurate identification of marker chromosome origin is crucial for genetic diagnosis.

Observation:

  • A pediatric case presented with developmental delay, short stature, and autistic behaviors.
  • The patient exhibited mosaicism: 46,XX/47,XX,+mar(21) de novo.
  • The marker chromosome was small, appearing ring or dot-like.

Findings:

  • Microdissection and FISH analysis were employed to characterize the marker.
  • FISH results indicated an acrocentric origin for the marker.
  • Further FISH with specific probes confirmed the marker originated from chromosome 21.

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Implications:

  • This case highlights a novel de novo marker 21 in a child with neurodevelopmental and growth abnormalities.
  • Understanding the origin of marker chromosomes aids in genotype-phenotype correlation.
  • Further research is needed to elucidate the specific contribution of this marker to the observed clinical features.