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Related Experiment Videos

Four siblings with Robert's syndrome

L Zergollern, V Hitrec

    Clinical Genetics
    |January 1, 1982
    PubMed
    Summary

    This study describes a Yugoslav family with four children diagnosed with Robert

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    Area of Science:

    • Genetics
    • Human Diseases
    • Medical Research

    Background:

    • Robert's syndrome (RS) is a rare genetic disorder.
    • Familial cases of RS are infrequently documented.

    Observation:

    • A Yugoslavian family presented with four affected siblings (one female, three male).
    • The fourth sibling exhibited symptoms highly consistent with SC syndrome.

    Findings:

    • This family represents the largest reported sibling cohort with Robert's syndrome.
    • Identical chromosomal abnormalities were observed in the third and fourth siblings, suggesting a shared genetic etiology.
    • Symptomatic overlap between Robert's syndrome and SC syndrome was noted in the fourth sibling.

    Implications:

    • The findings expand the known spectrum of Robert's syndrome presentation.
    • Identified chromosomal abnormalities may aid in the antenatal diagnosis of Robert's syndrome.
    • Further research into the genetic basis of Robert's syndrome and its relationship with SC syndrome is warranted.