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Trisomy 12p mosaicism syndrome.

C B Karki1, R M Walters

  • 1Stoke Park Hospital, Stapleton, Bristol, England.

Journal of Mental Deficiency Research
|February 1, 1990
PubMed
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This study describes a rare case of de novo trisomy 12p mosaicism in a young woman with profound intellectual disability and severe behavioral issues. Clinical, cytogenetic, and biochemical analyses confirmed the 12p syndrome diagnosis.

Area of Science:

  • Genetics
  • Human Genetics
  • Medical Genetics

Background:

  • Trisomy 12p is a rare chromosomal abnormality.
  • Mosaicism involves having cells with different chromosome numbers.
  • De novo mutations occur spontaneously and are not inherited.

Observation:

  • A 21-year-old female presented with profound intellectual disability and severe behavioral problems.
  • Clinical examination revealed features consistent with 12p syndrome.
  • Cytogenetic and biochemical studies confirmed trisomy 12p mosaicism.

Findings:

  • The patient's condition was a de novo occurrence, meaning it was not inherited from her parents.
  • Detailed clinical, cytogenetic, and biochemical analyses confirmed the diagnosis of 12p syndrome.

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  • The findings were compared with existing literature on de novo trisomy 12p cases.

    • Implications:

    • This case expands the understanding of trisomy 12p mosaicism and its phenotypic variability.
    • It highlights the importance of comprehensive diagnostic approaches for rare genetic disorders.
    • Further research into the specific genetic mechanisms and long-term outcomes of de novo 12p syndrome is warranted.