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Related Experiment Videos

A new case of partial trisomy 15q-.

A Geneix, J Y Jaffray, P Malet

    Human Genetics
    |October 2, 1979
    PubMed
    Summary

    Partial trisomy 15, a genetic condition, was identified in a newborn exhibiting head and extremity malformations. This chromosomal abnormality was linked to a translocation involving chromosomes 5 and 15, present in the mother and maternal grandfather.

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    Area of Science:

    • Genetics
    • Human Genetics
    • Medical Genetics

    Background:

    • Partial trisomy refers to the presence of an extra part of a chromosome.
    • Chromosomal abnormalities can lead to congenital malformations.
    • Translocations are a type of chromosomal rearrangement.

    Purpose of the Study:

    • To report a case of partial trisomy 15 in a newborn.
    • To investigate the genetic basis of observed malformations.
    • To identify familial chromosomal abnormalities.

    Main Methods:

    • Karyotyping of the newborn and familial members.
    • Clinical examination of the affected infant.
    • Genetic analysis to identify chromosomal translocations.

    Main Results:

    • The newborn presented with partial trisomy 15.
    • Congenital malformations of the head and extremities were observed.
    • A balanced translocation, t(5;15), was identified in the mother and maternal grandfather.

    Conclusions:

    • Partial trisomy 15 can result in significant congenital anomalies.
    • Familial translocations are a crucial consideration in cases of recurrent chromosomal abnormalities.
    • Genetic counseling is recommended for families with known translocations.

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