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Related Experiment Videos

New chromosomal dysmorphic syndromes. 3. Partial trisomy 3q.

S Stengel-Rutkowski, J D Murken, V Pilar

    European Journal of Pediatrics
    |February 8, 1979
    PubMed
    Summary

    A newborn with genetic abnormalities presented with duplication of chromosome 3q (3q2100-3q2700). This rare genetic disorder causes severe malformations and is recognizable by specific physical characteristics.

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    Area of Science:

    • Human Genetics
    • Clinical Dysmorphology
    • Medical Diagnostics

    Background:

    • Genetic disorders can manifest with complex phenotypes.
    • Chromosome abnormalities are a significant cause of congenital malformations.
    • Diabetic parental background can sometimes be associated with increased risk for certain genetic conditions.

    Observation:

    • A newborn exhibited multiple dysmorphic signs and malformations.
    • Chromosome analysis revealed a direct duplication of a segment of the long arm of chromosome 3 (3q2100-3q2700).
    • Both parents had normal karyotypes, suggesting a de novo event or parental mosaicism.

    Findings:

    • The identified partial trisomy 3q syndrome is characterized by hypertrichosis, craniofacial dysmorphia, organ malformations, skeletal anomalies, and a distinct dermatoglyphic pattern.

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  • Clinical recognition of this syndrome is possible by compiling phenotype data.
  • This severe genetic disturbance often leads to early-life mortality.

    • Implications:

    • Early identification of trisomy 3q syndrome is crucial for genetic counseling and management.
    • Understanding the phenotype assists in diagnosing similar cases.
    • Symptomatic care is the current recommended approach due to the severity of the condition.