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Related Experiment Videos

Trisomy-D in a cyclops with cardiovascular defects.

O E Jaschevatzky, B Goldman, P Georghiou

    Acta Obstetricia Et Gynecologica Scandinavica
    |January 1, 1976
    PubMed
    Summary

    This case report details a female infant with cyclopia and trisomy-D, alongside cardiovascular defects. Literature review suggests two main causes for cyclopia: trisomy-D and other genetic or non-genetic factors.

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    Area of Science:

    • Genetics
    • Developmental Biology
    • Pediatric Cardiology

    Background:

    • Cyclopia, a rare congenital anomaly, presents with a single midline eye.
    • Understanding the etiology of cyclopia is crucial for genetic counseling and clinical management.

    Observation:

    • Presents a case of cyclopia in a female infant with trisomy-D (a chromosomal abnormality).
    • The infant also exhibited significant cardiovascular defects.

    Findings:

    • The case aligns with a potential subgroup of cyclopia linked to trisomy-D.
    • Literature review indicates distinct etiologic categories for cyclopia, including trisomy-D, other chromosomal aberrations, single gene mutations, and non-genetic factors.

    Implications:

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  • This case contributes to understanding the genetic basis of cyclopia.
  • Highlights the association between trisomy-D, cyclopia, and congenital heart defects.
  • Suggests the need for comprehensive genetic and cardiac evaluations in infants with cyclopia.