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Related Experiment Videos

Partial trisomy 10p.

K P Grosse, G Schwanitz, H Singer

    Humangenetik
    |September 10, 1975
    PubMed
    Summary
    This summary is machine-generated.

    A boy with trisomy 10p, caused by paternal 7/10 translocation, experienced severe developmental delays and distinct facial features. This case highlights the genetic basis of 10p trisomy syndrome.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Clinical Dysmorphology

    Background:

    • Trisomy of the distal short arm of chromosome 10 (10p trisomy) is a rare chromosomal abnormality.
    • Parental balanced translocations are a known cause of recurrent chromosomal disorders in offspring.
    • Specific phenotypic features associated with 10p trisomy are being elucidated through case reports.

    Purpose of the Study:

    • To report a case of 10p trisomy in a young boy.
    • To investigate the genetic etiology of the observed trisomy.
    • To contribute to the understanding of the clinical manifestations of 10p trisomy.

    Main Methods:

    • Karyotyping of the patient and parental chromosomal analysis.
    • Clinical examination of the patient, noting physical and developmental characteristics.

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  • Review of existing literature on 10p trisomy cases.

    • Main Results:

    • The patient presented with trisomy of the distal 10p, resulting from a balanced 7/10 translocation in the father.
    • Clinical findings included severe mental retardation, short stature, hypotonia, and delayed bone age.
    • A prominent high and bulky forehead was observed, a feature noted in previous 10p trisomy cases.

    Conclusions:

    • Paternal balanced translocation can lead to 10p trisomy in offspring.
    • The reported case expands the phenotypic spectrum of 10p trisomy syndrome.
    • The characteristic facial features, particularly the forehead shape, may serve as a diagnostic clue for 10p trisomy.