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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.

Citation

H C Soltan, J H Jung, Z Pyatt, R P Singh. Partial trisomy 9q resulting from a familial translocation t(9;16)(q32;q24). Clinical genetics. 1984 May;25(5):449-54

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PMID: 6723106

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