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Ring chromosome 3 in a retarded boy.

R Witkowski, E Ullrich, U Piede

    Human Genetics
    |June 27, 1978
    PubMed
    Summary

    A rare ring chromosome 3 (r(3)) in a boy caused developmental delays, growth issues, distinct facial features, and fused toes. His parents, with normal karyotypes and phenotypes, did not carry this genetic anomaly.

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    Area of Science:

    • Human Genetics
    • Clinical Dysmorphology
    • Pediatric Endocrinology

    Background:

    • Ring chromosome 3 (r(3)) is a rare chromosomal abnormality.
    • Such anomalies can lead to complex phenotypes, including developmental and growth impairments.

    Purpose of the Study:

    • To report a case of a boy with a 46,XY,r(3) karyotype.
    • To describe the associated clinical phenotype and genetic findings.

    Main Methods:

    • Karyotyping was performed on the patient and his parents.
    • Phenotypic evaluation included assessment of psychomotor development, growth parameters, craniofacial features, and limb anomalies.

    Main Results:

    • The patient presented with psychomotor and growth retardation, craniofacial anomalies, syndactyly of the toes, and pedal edema.
    • Both parents exhibited normal karyotypes (46,XY and 46,XX) and normal phenotypes, indicating a de novo occurrence of the r(3) in the proband.

    Conclusions:

    • The case highlights the phenotypic variability associated with ring chromosome 3.
    • This finding underscores the importance of cytogenetic analysis in diagnosing developmental disorders, even with normal parental karyotypes.

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