Tandem duplication of chromosome 14 (q24+q32) in male newborn with congenital malformations |
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Authors: | Jovanka Nikoli, ,Ksenija,Ivanovi Marija,Kosanovi |
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Affiliation: | Institute of Biology and Human Genetics, School of Medicine, University of Belgrade, Beograd;Department of Pediatrics, General Hospital, PanEevo, Yugoslavia |
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Abstract: | A tandem duplication of 14q24→q32, estimated by G- and R-banding, was found in a male newborn with growth retardation and congenital malformations. His clinical picture is compared with that of three patients from the literature with partial trisomy for a similar segment of 14q due to a parental reciprocal translocation or a de novo translocation. |
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Keywords: | Abnormal chromosome 14 congenital malformations tandem duplication |
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