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Related Experiment Videos

Two siblings with partial trisomy 1(q42.3-ter)

Y Sunaga1, T Ohtsuka, K Nagashima

  • 1Department of Pediatrics, Gunma University School of Medicine, Japan.

Brain & Development
|March 1, 1993
PubMed
Summary

Mild partial trisomy 1, a chromosome translocation, presents with psychomotor delays and distinct facial features. These cases highlight that the extent of extra genetic material influences symptom severity, aiding diagnosis.

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Area of Science:

  • Genetics
  • Human Genetics
  • Cytogenetics

Background:

  • Describes a rare genetic condition, partial trisomy 1, resulting from an unbalanced chromosome translocation t(1;3)(q42.3;p26.3).
  • Focuses on two brothers with mild manifestations of this translocation and their mother, a balanced carrier.

Observation:

  • Patients exhibited minor anomalies including macrocephaly, prominent forehead, low-set ears, high-arched palate, hypertelorism, and slender extremities.
  • Brain CT revealed psychomotor retardation and ventricular dilatation in affected individuals.

Findings:

  • The study suggests that the severity of partial trisomy 1 phenotype correlates with the amount of extra genetic material.
  • Key diagnostic features for mild partial trisomy 1 include psychomotor delay, prominent forehead, and slender hands/feet, often with macrocephaly and ventricular dilatation.

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Implications:

  • These findings aid in recognizing and diagnosing milder forms of partial trisomy 1.
  • Understanding genotype-phenotype correlations is crucial for genetic counseling and clinical management.