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Partial 9p monosomy--a case with hypothyroidism.

D Ioan, L Dumitriu, P Muşeţeanu

    Endocrinologie
    |October 1, 1985
    PubMed
    Summary
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    A child presented with developmental delays and distinct physical features, diagnosed with a de novo terminal 9p deletion. This genetic condition was associated with hypothyroidism, highlighting a complex interplay of neurological and endocrine issues.

    Area of Science:

    • Genetics
    • Pediatrics
    • Endocrinology

    Background:

    • This case highlights the phenotypic variability associated with chromosomal abnormalities.
    • Focuses on a pediatric patient with multiple congenital anomalies.

    Observation:

    • A 4-year-old boy exhibited psychomotor retardation, microcephaly, flat occipital, mongoloid slant, macrostomia with a thickened lower lip, and long filiform fingers.
    • Clinical presentation suggestive of a genetic syndrome.

    Findings:

    • Cytogenetic analysis revealed a "de novo" terminal 9p deletion.
    • Endocrine evaluation identified hypothyroidism in the patient.

    Implications:

    • The terminal 9p deletion is linked to a specific set of developmental and physical characteristics.

    Related Experiment Videos

  • Co-occurrence of hypothyroidism underscores the need for comprehensive endocrine screening in patients with 9p deletion syndrome.