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Mosaic 45,x/47,xy,+18

F Serville, D Fontan, C Laurent

    Human Genetics
    |May 10, 1977
    PubMed
    Summary
    This summary is machine-generated.

    This case study describes a female infant with Turner phenotype, buphthalmia, and mental retardation, who presented with 45,X/47,XY,+18 chromosomal mosaicism. Post-mortem findings included ovarian agenesis and calcified aortic stenosis.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Pathology

    Background:

    • This report details a rare case of a female infant presenting with congenital anomalies.
    • The infant exhibited features suggestive of Turner syndrome and developmental delays.

    Observation:

    • The infant presented with buphthalmia (enlarged eyes), Turner phenotype, and mental retardation.
    • Initial blood culture identified a chromosomal mosaicism of 45,X/47,XY,+18.
    • Fibroblast culture, however, exclusively showed 45,X cells.

    Findings:

    • The infant succumbed at 11 months of age.
    • Post-mortem examination revealed ovarian agenesis (underdeveloped ovaries).
    • Calcified aortic stenosis, a significant heart valve defect, was also identified.

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    Implications:

    • This case highlights the complex interplay between chromosomal abnormalities and congenital malformations.
    • It underscores the importance of comprehensive genetic and pathological evaluation in infants with multiple anomalies.
    • The findings contribute to understanding the spectrum of conditions associated with Turner syndrome and trisomy 18 mosaicism.