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Related Experiment Videos

[Phenotype of trisomy 9].

R A Pfeiffer, R Müller

    Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
    |October 1, 1984
    PubMed
    Summary

    This study describes a male infant with trisomy 9, a rare chromosomal condition. The infant presented with multiple congenital malformations and developmental delays, consistent with known features of this syndrome.

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    Area of Science:

    • Genetics
    • Developmental Biology
    • Clinical Medicine

    Background:

    • Trisomy 9 is a rare chromosomal aberration.
    • Characterized by a wide spectrum of congenital anomalies and developmental issues.
    • Previous literature describes various phenotypes associated with trisomy 9.

    Observation:

    • A male infant presented with multiple malformations including cleft lip and palate.
    • The infant also exhibited joint contractures and limb abnormalities (aplasias and dysplasias of fingers and toes).
    • Antenatal and postnatal growth retardation and severe psychomotor development delay were noted.

    Findings:

    • The observed features in the infant are consistent with the known phenotype of trisomy 9.
    • Summarizes the phenotype of trisomy 9 based on 20 published cases since 1973.
    • Highlights the significant impact of this chromosomal aberration on development.

    Implications:

    • This case contributes to the understanding of trisomy 9 phenotype variability.
    • Emphasizes the importance of genetic evaluation in infants with multiple congenital anomalies.
    • Informs genetic counseling and clinical management strategies for families affected by trisomy 9.

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