Partial Trisomy 9q resulting from a familial translocation t(9;16)(q32;q24)
1984; Wiley; Volume: 25; Issue: 5 Linguagem: Inglês
10.1111/j.1399-0004.1984.tb02015.x
ISSN1399-0004
AutoresHubert C. Soltan, Jin-Kyu Jung, Z. Pyatt, Roderick P. Singh,
Tópico(s)Congenital Ear and Nasal Anomalies
ResumoPartial 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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