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Complete trisomy 9. Two additional cases.

A Delicado, L Iñiguez, I Lopez Pajares

    Annales De Genetique
    |January 1, 1985
    PubMed
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    Complete trisomy 9 is a rare chromosomal disorder affecting infants. This study details two cases, highlighting key features like growth retardation and multiple malformations, with limited survival.

    Area of Science:

    • Genetics and Developmental Biology
    • Pediatric Medicine
    • Clinical Genetics

    Background:

    • Trisomy 9, a chromosomal abnormality, is associated with severe developmental issues.
    • Complete trisomy 9 is exceedingly rare and often incompatible with long-term survival.
    • Understanding the phenotypic spectrum is crucial for genetic counseling and clinical management.

    Purpose of the Study:

    • To describe the clinical presentation and outcomes of two infants with complete trisomy 9.
    • To document the characteristic dysmorphic features and internal malformations associated with this condition.
    • To contribute to the literature on the phenotypic variability of trisomy 9.

    Main Methods:

    • Case report of two neonates diagnosed with complete trisomy 9.

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  • Clinical examination focusing on growth parameters, facial features, external genitalia, and organ systems.
  • Review of medical records and pathological findings (if applicable).

    • Main Results:

    • Both infants exhibited intrauterine growth retardation.
    • Characteristic facial dysmorphism, hypoplastic external genitalia, and congenital malformations of the heart, brain, and skeleton were observed.
    • One infant survived only a few minutes, while the other survived for 24 hours, indicating extremely poor prognosis.

    Conclusions:

    • Complete trisomy 9 is a severe genetic disorder with a uniformly poor prognosis.
    • The described clinical findings represent a consistent pattern of malformations in this syndrome.
    • Early recognition and genetic diagnosis are important for parental counseling regarding the severity and implications of complete trisomy 9.