Translocation 9q/13q resulting in duplication (trisomy 9pter→9q22) and deficiency (monosomy 13pter→13q12) |
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| Authors: | Patricia N Howard-Peebles Karen M Yarbrough Gayle R Stoddard Jack M Rary |
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| Institution: | Institute of Genetics, Department of Microbiology, University of Southern Mississippi, Hattiesburg;Medical Laboratory, Ellisville State School, Ellisville;Department of Gynecology and Obstetrics, The Johns Hopkins University School of Medicine, Baltimore, USA. |
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| Abstract: | A profoundly retarded, 12-year-old female is described. Her phenotype is compatible with the clinical features of the trisomy 9p syndrome. Cytogenetic analyses showed her to be trisomic for 9pter→9q22 and monosomic for 13pter→13q12, as the result of adjacent-2 segregation during meiosis in her mother. The family pedigree shows this (9;13) translocation to be present in at least three generations. |
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