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Related Experiment Videos

Supernumerary chromosome marker (1) in a developmentally delayed child

N Lanphear1, A Lamb, S Oppenheimer

  • 1University Affiliated Cincinnati Center for Developmental Disorders, Children's Hospital Medical Center, OH 45229-2899, USA.

American Journal of Medical Genetics
|July 3, 1995
PubMed
Summary

A boy with developmental delay had mosaic trisomy 1, identified as a small de novo ring chromosome 1 (mar(1)). This genetic finding provides insight into rare chromosomal abnormalities.

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Area of Science:

  • Genetics
  • Developmental Pediatrics
  • Cytogenetics

Background:

  • Developmental delay and congenital anomalies can stem from various genetic factors.
  • Chromosomal abnormalities, including mosaicism and marker chromosomes, are critical to identify for accurate diagnosis.

Observation:

  • A 15-month-old boy presented with mild developmental delay and minor anomalies.
  • Karyotype analysis revealed mosaicism, specifically a 46,XY/47,XY,+mar(1) cell line.

Findings:

  • The extra marker, designated r(1), was characterized as a small de novo ring chromosome 1.
  • Fluorescence In Situ Hybridization (FISH) using a painting DNA probe confirmed the origin of the marker chromosome.

Implications:

Related Experiment Videos

  • This case highlights the importance of detailed cytogenetic analysis in diagnosing developmental disorders.
  • Identifying de novo marker chromosomes like ring 1 is crucial for understanding genotype-phenotype correlations.
  • Further investigation may clarify the specific contribution of this mosaic ring chromosome 1 to the patient's phenotype.