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  • Title: Partial trisomy 9q resulting from a familial translocation t(9;16)(q32;q24).
    Author: Soltan HC, Jung JH, Pyatt Z, Singh RP.
    Journal: Clin Genet; 1984 May; 25(5):449-54. PubMed ID: 6723106.
    Abstract:
    Partial Trisomy- 9q was observed in an infant with a multiple malformation syndrome who survived to 18 months. Cytogenetic investigations stimulated by the family history of similarly affected individuals revealed a translocation, t(9;16)(q32;q24), identifiable in four generations of the proband's family. A review of our cases with those reported in the literature reveals clinical similarities. This report sets forth a clinical description of the characteristic phenotype of the 9q partial Trisomy syndrome, including findings at post-mortem, documents multigeneration transmission and discusses this syndrome's clinical overlap with other malformation syndromes.
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