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Partial trisomy 3p syndrome.

J A Reiss, L J Sheffield, G R Sutherland

    Clinical Genetics
    |July 1, 1986
    PubMed
    Summary
    This summary is machine-generated.

    This study describes two cousins with partial trisomy 3p, a condition causing distinct facial features, developmental delays, and heart defects. The findings highlight congenital heart disease as a common initial sign of this genetic syndrome.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Clinical Dysmorphology

    Background:

    • Unbalanced chromosome translocations can lead to distinct genetic syndromes with recognizable phenotypes.
    • Partial trisomy 3p, specifically involving the 3p21 region, is a rare chromosomal abnormality.
    • Identifying characteristic clinical features aids in diagnosing and understanding the prognosis of chromosomal disorders.

    Observation:

    • Two cousins presented with a consistent syndrome including square facies, prominent cheeks, narrow bitemporal regions, psychomotor retardation, and congenital heart disease.
    • Family studies revealed additional affected individuals and carriers of the t(1;3)(q43;p21) translocation.
    • A review of 22 additional cases of partial 3p trisomy was conducted.

    Findings:

    • The study confirms a characteristic clinical appearance associated with partial trisomy 3p.

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  • Congenital heart disease was frequently observed as the presenting feature in affected individuals.
  • The translocation t(1;3)(q43;p21) was identified as the underlying genetic cause in the described family.

    • Implications:

    • Early recognition of the partial trisomy 3p phenotype, particularly congenital heart disease, can facilitate timely diagnosis.
    • Understanding the genetic basis and clinical spectrum of partial trisomy 3p aids in genetic counseling and family planning.
    • This research contributes to the broader knowledge of chromosomal abnormalities and their impact on human development.