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Partial trisomy 7q in two siblings.

M Klasen, M Schmid, I Hansmann

    Annales De Genetique
    |January 1, 1983
    PubMed
    Summary
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    A balanced reciprocal translocation in the mother resulted in trisomy for 7q32 and monosomy for 9p24 in her children. This chromosomal abnormality caused significant intellectual and developmental delays in the siblings.

    Area of Science:

    • Genetics
    • Developmental Biology
    • Clinical Genetics

    Background:

    • Balanced reciprocal translocations can lead to unbalanced chromosomal segregation in offspring.
    • Maternal translocations are a significant factor in recurrent miscarriage and congenital anomalies.

    Observation:

    • A familial balanced reciprocal translocation between chromosome 7 long arm and chromosome 9 short arm was identified in the mother.
    • Two siblings, a sister and a brother, presented with trisomy for 7q32 (leading to 7qter) and monosomy for 9p24 (leading to 9pter).

    Findings:

    • The affected siblings exhibited significant intellectual disability and psychomotor developmental retardation.
    • The specific chromosomal imbalances, trisomy 7q32 and monosomy 9p24, are correlated with the observed developmental deficits.

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    Implications:

    • This case highlights the importance of cytogenetic analysis in cases of unexplained developmental delay.
    • Understanding the phenotypic consequences of specific chromosomal segment imbalances (trisomy 7q and monosomy 9p) is crucial for genetic counseling and diagnosis.
    • Further research into genotype-phenotype correlations for 7q trisomy and 9p monosomy is warranted.